HGVS | Genome Assembly |
---|---|
NC_000009.12:g.21140692T>A , CM000671.2:g.21140692T>A | GRCh38 |
NC_000009.11:g.21140691T>A , CM000671.1:g.21140691T>A | GRCh37 |
NC_000009.10:g.21130691T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000380229.4:c.*291A>T MANE Select | ENSP00000369578.2:n.*291A>T | |
ENST00000380229.3:c.*291A>T | ENSP00000369578.2:n.*291A>T | |
NM_002177.1:c.*291A>T | NP_002168.1:n.*291A>T | |
NM_002177.2:c.*291A>T | NP_002168.1:n.*291A>T | |
NM_002177.3:c.*291A>T MANE Select | NP_002168.1:n.*291A>T |