HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322846G= , CM000677.2:g.73322846G= | GRCh38 |
NC_000015.9:g.73615187G= , CM000677.1:g.73615187G= | GRCh37 |
NC_000015.8:g.71402240G= | NCBI36 |
NG_009063.1:g.51419C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3247C= MANE Select | ENSP00000261917.3:p.Leu1083= | |
ENST00000261917.3:c.3247C= | ENSP00000261917.3:p.Leu1083= | |
NM_005477.2:c.3247C= | NP_005468.1:p.Leu1083= | |
XM_011521148.1:c.2029C= | XP_011519450.1:p.Leu677= | |
XM_011521148.2:c.2029C= | XP_011519450.1:p.Leu677= | |
NM_005477.3:c.3247C= MANE Select | NP_005468.1:p.Leu1083= |