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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.13615580A>G , CM000674.2:g.13615580A>G
GRCh38
NC_000012.11:g.13768514A>G , CM000674.1:g.13768514A>G
GRCh37
NC_000012.10:g.13659781A>G
NCBI36
NG_031854.1:g.369509T>C
NG_031854.2:g.371433T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609686.4:c.1413T>C
MANE Select
ENSP00000477455.1:p.Ser471=
ENST00000609686.3:c.1413T>C
ENSP00000477455.1:p.Ser471=
NM_000834.3:c.1413T>C
NP_000825.2:p.Ser471=
XM_011520628.1:c.1413T>C
XP_011518930.1:p.Ser471=
XM_011520629.1:c.1413T>C
XP_011518931.1:p.Ser471=
XM_011520630.1:c.1413T>C
XP_011518932.1:p.Ser471=
XR_931372.1:n.307+354A>G
XR_931373.1:n.447+354A>G
XR_931374.1:n.246+354A>G
NM_000834.4:c.1413T>C
NP_000825.2:p.Ser471=
XM_011520628.2:c.1413T>C
XP_011518930.1:p.Ser471=
XM_011520629.2:c.1413T>C
XP_011518931.1:p.Ser471=
XM_017019219.2:c.1413T>C
XP_016874708.1:p.Ser471=
XR_001749013.1:n.728+354A>G
XR_931372.2:n.444+354A>G
XR_931373.2:n.586+354A>G
NM_000834.5:c.1413T>C
MANE Select
NP_000825.2:p.Ser471=