HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787524C>A , CM000681.2:g.18787524C>A | GRCh38 |
NC_000019.9:g.18898333C>A , CM000681.1:g.18898333C>A | GRCh37 |
NC_000019.8:g.18759333C>A | NCBI36 |
NG_007070.1:g.8782G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1102G>T MANE Select | ENSP00000222271.2:p.Gly368Cys | |
ENST00000222271.6:c.1102G>T | ENSP00000222271.2:p.Gly368Cys | |
ENST00000425807.1:c.943G>T | ENSP00000403792.1:p.Gly315Cys | |
ENST00000542601.6:c.1003G>T | ENSP00000439156.2:p.Gly335Cys | |
NM_000095.2:c.1102G>T | NP_000086.2:p.Gly368Cys | |
NM_000095.3:c.1102G>T MANE Select | NP_000086.2:p.Gly368Cys |