HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49125459T>C , CM000665.2:g.49125459T>C | GRCh38 |
NC_000003.11:g.49162892T>C , CM000665.1:g.49162892T>C | GRCh37 |
NC_000003.10:g.49137896T>C | NCBI36 |
NG_008094.1:g.12708A>G | |
NG_054716.1:g.480A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.2514A>G MANE Select | ENSP00000307156.4:p.Ala838= | |
ENST00000305544.8:c.2514A>G | ENSP00000307156.4:p.Ala838= | |
ENST00000418109.5:c.2514A>G | ENSP00000388325.1:p.Ala838= | |
ENST00000464891.5:n.263A>G | ||
ENST00000477701.1:n.387A>G | ||
ENST00000483057.1:n.114A>G | ||
ENST00000486298.5:n.426-290A>G | ||
NM_002292.3:c.2514A>G | NP_002283.3:p.Ala838= | |
XM_005265127.3:c.2514A>G | XP_005265184.1:p.Ala838= | |
XM_005265127.4:c.2514A>G | XP_005265184.1:p.Ala838= | |
NM_002292.4:c.2514A>G MANE Select | NP_002283.3:p.Ala838= |