HGVS | Genome Assembly |
---|---|
NC_000011.10:g.123906698T>A , CM000673.2:g.123906698T>A | GRCh38 |
NC_000011.9:g.123777405T>A , CM000673.1:g.123777405T>A | GRCh37 |
NC_000011.8:g.123282615T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000641687.1:c.267T>A MANE Select | ENSP00000493391.1:p.Asp89Glu | |
ENST00000321355.3:c.267T>A | ENSP00000325381.2:p.Asp89Glu | |
NM_001005197.1:c.267T>A | NP_001005197.1:p.Asp89Glu | |
NM_001005197.2:c.267T>A MANE Select | NP_001005197.1:p.Asp89Glu |