HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136676642G>T , CM000671.2:g.136676642G>T | GRCh38 |
NC_000009.11:g.139571094G>T , CM000671.1:g.139571094G>T | GRCh37 |
NC_000009.10:g.138690915G>T | NCBI36 |
NG_008090.1:g.15818C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.531C>A MANE Select | ENSP00000360761.2:p.Asp177Glu | |
ENST00000371694.7:c.492+319C>A | ENSP00000360759.3:n.492+319C>A | |
ENST00000371696.6:c.531C>A | ENSP00000360761.2:p.Asp177Glu | |
ENST00000472820.1:n.459C>A | ||
ENST00000538402.1:c.531C>A | ENSP00000438919.1:p.Asp177Glu | |
NM_001012727.1:c.492+319C>A | NP_001012745.1:n.492+319C>A | |
NM_006412.3:c.531C>A | NP_006403.2:p.Asp177Glu | |
NM_006412.4:c.531C>A MANE Select | NP_006403.2:p.Asp177Glu | |
NM_001012727.2:c.492+319C>A | NP_001012745.1:n.492+319C>A |