HGVS | Genome Assembly |
---|---|
NC_000001.11:g.212883407T>A , CM000663.2:g.212883407T>A | GRCh38 |
NC_000001.10:g.213056749T>A , CM000663.1:g.213056749T>A | GRCh37 |
NC_000001.9:g.211123372T>A | NCBI36 |
NG_028131.1:g.30153T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366971.9:c.1061T>A MANE Select | ENSP00000355938.4:p.Leu354Ter | |
ENST00000366971.8:c.1061T>A | ENSP00000355938.4:p.Leu354Ter | |
ENST00000419102.1:c.457T>A | ||
ENST00000474693.1:n.286T>A | ||
NM_014053.3:c.1061T>A | NP_054772.1:p.Leu354Ter | |
XM_011509446.1:c.1061T>A | XP_011507748.1:p.Leu354Ter | |
XR_247024.1:n.1235T>A | ||
XR_426771.1:n.1362T>A | ||
XM_011509446.3:c.1061T>A | XP_011507748.1:p.Leu354Ter | |
XR_247024.3:n.1235T>A | ||
NM_014053.4:c.1061T>A MANE Select | NP_054772.1:p.Leu354Ter |