HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49124921C= , CM000665.2:g.49124921C= | GRCh38 |
NC_000003.11:g.49162354C= , CM000665.1:g.49162354C= | GRCh37 |
NC_000003.10:g.49137358C= | NCBI36 |
NG_008094.1:g.13246G= | |
NG_054716.1:g.1018G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.2889G= MANE Select | ENSP00000307156.4:p.Leu963= | |
ENST00000305544.8:c.2889G= | ENSP00000307156.4:p.Leu963= | |
ENST00000418109.5:c.2889G= | ENSP00000388325.1:p.Leu963= | |
ENST00000462930.5:n.296G= | ||
ENST00000464891.5:n.622G= | ||
ENST00000483057.1:n.489G= | ||
ENST00000542580.1:n.204G= | ||
NM_002292.3:c.2889G= | NP_002283.3:p.Leu963= | |
XM_005265127.3:c.2889G= | XP_005265184.1:p.Leu963= | |
XM_005265127.4:c.2889G= | XP_005265184.1:p.Leu963= | |
NM_002292.4:c.2889G= MANE Select | NP_002283.3:p.Leu963= |