[ensembl-dev] Probably incorrect HGVS on GRCh37 RefSeq

[Wallace Ko]

Hi Ensembl Developers,

The variant NC_000012.11:g.103249104C>A is annotated by online VEP and
offline cached VEP (99, RefSeq, GRCh37) as:

   - HGVSc: NM_000277.1:*c.517*G>T
   - HGVSp: NP_000268.1:p.Gln172His
   - CDS Position: 516

On the other hand, ClinVar
<https://www.ncbi.nlm.nih.gov/clinvar/variation/664621/> reports the
variant as NM_000277.3:*c.516*G>T (NP_000268.1:p.Gln172His). Besides, blast
result shows that there is a 1-bp gap between c.303 and c.304
when NM_000277.1 is aligned to NC_000012.11. And even VEP itself reports
the CDS position as 516.

All these make me believe that the HGVSc reported should be at c.516
instead of c.517.

Regards,
Wallace Ko
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