HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981638T>A , CM000674.2:g.48981638T>A | GRCh38 |
NC_000012.11:g.49375421T>A , CM000674.1:g.49375421T>A | GRCh37 |
NC_000012.10:g.47661688T>A | NCBI36 |
NG_033141.1:g.8186T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.1111T>A MANE Select | ENSP00000293549.3:p.Ter371Arg | |
ENST00000293549.3:c.1111T>A | ENSP00000293549.3:p.Ter371Arg | |
ENST00000613114.4:c.1078T>A | ENSP00000481240.1:p.Ter360Arg | |
NM_005430.3:c.1111T>A | NP_005421.1:p.Ter371Arg | |
NM_005430.4:c.1111T>A MANE Select | NP_005421.1:p.Ter371Arg |