HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94780659G>C , CM000672.2:g.94780659G>C | GRCh38 |
NC_000010.10:g.96540416G>C , CM000672.1:g.96540416G>C | GRCh37 |
NC_000010.9:g.96530406G>C | NCBI36 |
NG_008384.2:g.22954G>C | |
NG_008384.3:g.22979G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.642G>C MANE Select | ENSP00000360372.3:p.Gln214His | |
ENST00000645461.1:n.1695G>C | ||
ENST00000371321.7:c.642G>C | ENSP00000360372.3:p.Gln214His | |
ENST00000464755.1:c.1405G>C | ENSP00000483243.1:n.1405G>C | |
NM_000769.2:c.642G>C | NP_000760.1:p.Gln214His | |
NM_000769.4:c.642G>C MANE Select | NP_000760.1:p.Gln214His |