HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786012C>T , CM000681.2:g.18786012C>T | GRCh38 |
NC_000019.9:g.18896822C>T , CM000681.1:g.18896822C>T | GRCh37 |
NC_000019.8:g.18757822C>T | NCBI36 |
NG_007070.1:g.10293G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1442G>A MANE Select | ENSP00000222271.2:p.Arg481Gln | |
ENST00000222271.6:c.1442G>A | ENSP00000222271.2:p.Arg481Gln | |
ENST00000425807.1:c.1283G>A | ENSP00000403792.1:p.Arg428Gln | |
ENST00000542601.6:c.1343G>A | ENSP00000439156.2:p.Arg448Gln | |
NM_000095.2:c.1442G>A | NP_000086.2:p.Arg481Gln | |
NM_000095.3:c.1442G>A MANE Select | NP_000086.2:p.Arg481Gln |