HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49125474G>A , CM000665.2:g.49125474G>A | GRCh38 |
NC_000003.11:g.49162907G>A , CM000665.1:g.49162907G>A | GRCh37 |
NC_000003.10:g.49137911G>A | NCBI36 |
NG_008094.1:g.12693C>T | |
NG_054716.1:g.465C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.2499C>T MANE Select | ENSP00000307156.4:p.Cys833= | |
ENST00000305544.8:c.2499C>T | ENSP00000307156.4:p.Cys833= | |
ENST00000418109.5:c.2499C>T | ENSP00000388325.1:p.Cys833= | |
ENST00000464891.5:n.248C>T | ||
ENST00000477701.1:n.372C>T | ||
ENST00000483057.1:n.99C>T | ||
ENST00000486298.5:n.426-305C>T | ||
NM_002292.3:c.2499C>T | NP_002283.3:p.Cys833= | |
XM_005265127.3:c.2499C>T | XP_005265184.1:p.Cys833= | |
XM_005265127.4:c.2499C>T | XP_005265184.1:p.Cys833= | |
NM_002292.4:c.2499C>T MANE Select | NP_002283.3:p.Cys833= |