HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787601T>A , CM000681.2:g.18787601T>A | GRCh38 |
NC_000019.9:g.18898410T>A , CM000681.1:g.18898410T>A | GRCh37 |
NC_000019.8:g.18759410T>A | NCBI36 |
NG_007070.1:g.8705A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1025A>T MANE Select | ENSP00000222271.2:p.Asp342Val | |
ENST00000222271.6:c.1025A>T | ENSP00000222271.2:p.Asp342Val | |
ENST00000425807.1:c.866A>T | ENSP00000403792.1:p.Asp289Val | |
ENST00000542601.6:c.926A>T | ENSP00000439156.2:p.Asp309Val | |
NM_000095.2:c.1025A>T | NP_000086.2:p.Asp342Val | |
NM_000095.3:c.1025A>T MANE Select | NP_000086.2:p.Asp342Val |