HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49124870A>T , CM000665.2:g.49124870A>T | GRCh38 |
NC_000003.11:g.49162303A>T , CM000665.1:g.49162303A>T | GRCh37 |
NC_000003.10:g.49137307A>T | NCBI36 |
NG_008094.1:g.13297T>A | |
NG_054716.1:g.1069T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.2940T>A MANE Select | ENSP00000307156.4:p.Gly980= | |
ENST00000305544.8:c.2940T>A | ENSP00000307156.4:p.Gly980= | |
ENST00000418109.5:c.2940T>A | ENSP00000388325.1:p.Gly980= | |
ENST00000462930.5:n.347T>A | ||
ENST00000464891.5:n.673T>A | ||
ENST00000483057.1:n.540T>A | ||
ENST00000542580.1:n.255T>A | ||
NM_002292.3:c.2940T>A | NP_002283.3:p.Gly980= | |
XM_005265127.3:c.2940T>A | XP_005265184.1:p.Gly980= | |
XM_005265127.4:c.2940T>A | XP_005265184.1:p.Gly980= | |
NM_002292.4:c.2940T>A MANE Select | NP_002283.3:p.Gly980= |