HGVS | Genome Assembly |
---|---|
NC_000001.11:g.212883431A>G , CM000663.2:g.212883431A>G | GRCh38 |
NC_000001.10:g.213056773A>G , CM000663.1:g.213056773A>G | GRCh37 |
NC_000001.9:g.211123396A>G | NCBI36 |
NG_028131.1:g.30177A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366971.9:c.1085A>G MANE Select | ENSP00000355938.4:p.Tyr362Cys | |
ENST00000366971.8:c.1085A>G | ENSP00000355938.4:p.Tyr362Cys | |
ENST00000419102.1:c.481A>G | ||
ENST00000474693.1:n.310A>G | ||
ENST00000483790.1:n.23A>G | ||
NM_014053.3:c.1085A>G | NP_054772.1:p.Tyr362Cys | |
XM_011509446.1:c.1085A>G | XP_011507748.1:p.Tyr362Cys | |
XR_247024.1:n.1259A>G | ||
XR_426771.1:n.1386A>G | ||
XM_011509446.3:c.1085A>G | XP_011507748.1:p.Tyr362Cys | |
XR_247024.3:n.1259A>G | ||
NM_014053.4:c.1085A>G MANE Select | NP_054772.1:p.Tyr362Cys |