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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.81711512A>T , CM000669.2:g.81711512A>T
GRCh38
NC_000007.13:g.81340828A>T , CM000669.1:g.81340828A>T
GRCh37
NC_000007.12:g.81178764A>T
NCBI36
NG_016274.1:g.63625T>A
NG_016274.2:g.63625T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000222390.11:c.1413T>A
MANE Select
ENSP00000222390.5:p.Gly471=
ENST00000457544.7:c.1398T>A
ENSP00000391238.2:p.Gly466=
ENST00000222390.9:c.1413T>A
ENSP00000222390.5:p.Gly471=
ENST00000457544.6:c.1398T>A
ENSP00000391238.2:p.Gly466=
NM_000601.4:c.1413T>A
NP_000592.3:p.Gly471=
NM_001010932.1:c.1398T>A
NP_001010932.1:p.Gly466=
XM_006715956.2:c.1413T>A
XP_006716019.1:p.Gly471=
XM_011516115.1:c.1398T>A
XP_011514417.1:p.Gly466=
NM_000601.5:c.1413T>A
NP_000592.3:p.Gly471=
NM_001010932.2:c.1398T>A
NP_001010932.1:p.Gly466=
XM_011516115.2:c.1398T>A
XP_011514417.1:p.Gly466=
NM_000601.6:c.1413T>A
MANE Select
NP_000592.3:p.Gly471=
NM_001010932.3:c.1398T>A
NP_001010932.1:p.Gly466=