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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.45108160C>A , CM000677.2:g.45108160C>A
GRCh38
NC_000015.9:g.45400358C>A , CM000677.1:g.45400358C>A
GRCh37
NC_000015.8:g.43187650C>A
NCBI36
NG_009447.1:g.11002G>T
Transcript Alleles
HGVS
Amino-acid Change
NM_001363711.2:c.1461G>T
MANE Select
NP_001350640.1:p.Gly487=
ENST00000389039.11:c.1461G>T
MANE Select
ENSP00000373691.7:p.Gly487=
NM_001363711.1:c.1461G>T
NP_001350640.1:p.Gly487=
NM_014080.4:c.1461G>T
NP_054799.4:p.Gly487=
NM_014080.5:c.1461G>T
NP_054799.4:p.Gly487=
ENST00000389039.10:c.1461G>T
ENSP00000373691.6:p.Gly487=
ENST00000558383.1:n.3192G>T
ENST00000603300.1:c.1461G>T
ENSP00000475084.1:p.Gly487=
XM_005254421.2:c.1461G>T
XP_005254478.1:p.Gly487=