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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.13615523G>A , CM000674.2:g.13615523G>A
GRCh38
NC_000012.11:g.13768457G>A , CM000674.1:g.13768457G>A
GRCh37
NC_000012.10:g.13659724G>A
NCBI36
NG_031854.1:g.369566C>T
NG_031854.2:g.371490C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609686.4:c.1470C>T
MANE Select
ENSP00000477455.1:p.Ile490=
ENST00000609686.3:c.1470C>T
ENSP00000477455.1:p.Ile490=
NM_000834.3:c.1470C>T
NP_000825.2:p.Ile490=
XM_011520628.1:c.1470C>T
XP_011518930.1:p.Ile490=
XM_011520629.1:c.1470C>T
XP_011518931.1:p.Ile490=
XM_011520630.1:c.1470C>T
XP_011518932.1:p.Ile490=
XR_931372.1:n.307+297G>A
XR_931373.1:n.447+297G>A
XR_931374.1:n.246+297G>A
NM_000834.4:c.1470C>T
NP_000825.2:p.Ile490=
XM_011520628.2:c.1470C>T
XP_011518930.1:p.Ile490=
XM_011520629.2:c.1470C>T
XP_011518931.1:p.Ile490=
XM_017019219.2:c.1470C>T
XP_016874708.1:p.Ile490=
XR_001749013.1:n.728+297G>A
XR_931372.2:n.444+297G>A
XR_931373.2:n.586+297G>A
NM_000834.5:c.1470C>T
MANE Select
NP_000825.2:p.Ile490=