HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49125456G>T , CM000665.2:g.49125456G>T | GRCh38 |
NC_000003.11:g.49162889G>T , CM000665.1:g.49162889G>T | GRCh37 |
NC_000003.10:g.49137893G>T | NCBI36 |
NG_008094.1:g.12711C>A | |
NG_054716.1:g.483C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.2517C>A MANE Select | ENSP00000307156.4:p.Leu839= | |
ENST00000305544.8:c.2517C>A | ENSP00000307156.4:p.Leu839= | |
ENST00000418109.5:c.2517C>A | ENSP00000388325.1:p.Leu839= | |
ENST00000464891.5:n.266C>A | ||
ENST00000477701.1:n.390C>A | ||
ENST00000483057.1:n.117C>A | ||
ENST00000486298.5:n.426-287C>A | ||
NM_002292.3:c.2517C>A | NP_002283.3:p.Leu839= | |
XM_005265127.3:c.2517C>A | XP_005265184.1:p.Leu839= | |
XM_005265127.4:c.2517C>A | XP_005265184.1:p.Leu839= | |
NM_002292.4:c.2517C>A MANE Select | NP_002283.3:p.Leu839= |