HGVS | Genome Assembly |
---|---|
NC_000009.12:g.21140693G>T , CM000671.2:g.21140693G>T | GRCh38 |
NC_000009.11:g.21140692G>T , CM000671.1:g.21140692G>T | GRCh37 |
NC_000009.10:g.21130692G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000380229.4:c.*290C>A MANE Select | ENSP00000369578.2:n.*290C>A | |
ENST00000380229.3:c.*290C>A | ENSP00000369578.2:n.*290C>A | |
NM_002177.1:c.*290C>A | NP_002168.1:n.*290C>A | |
NM_002177.2:c.*290C>A | NP_002168.1:n.*290C>A | |
NM_002177.3:c.*290C>A MANE Select | NP_002168.1:n.*290C>A |