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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.81711488A>G , CM000669.2:g.81711488A>G
GRCh38
NC_000007.13:g.81340804A>G , CM000669.1:g.81340804A>G
GRCh37
NC_000007.12:g.81178740A>G
NCBI36
NG_016274.1:g.63649T>C
NG_016274.2:g.63649T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000222390.11:c.1437T>C
MANE Select
ENSP00000222390.5:p.Asn479=
ENST00000457544.7:c.1422T>C
ENSP00000391238.2:p.Asn474=
ENST00000222390.9:c.1437T>C
ENSP00000222390.5:p.Asn479=
ENST00000457544.6:c.1422T>C
ENSP00000391238.2:p.Asn474=
NM_000601.4:c.1437T>C
NP_000592.3:p.Asn479=
NM_001010932.1:c.1422T>C
NP_001010932.1:p.Asn474=
XM_006715956.2:c.1437T>C
XP_006716019.1:p.Asn479=
XM_011516115.1:c.1422T>C
XP_011514417.1:p.Asn474=
NM_000601.5:c.1437T>C
NP_000592.3:p.Asn479=
NM_001010932.2:c.1422T>C
NP_001010932.1:p.Asn474=
XM_011516115.2:c.1422T>C
XP_011514417.1:p.Asn474=
NM_000601.6:c.1437T>C
MANE Select
NP_000592.3:p.Asn479=
NM_001010932.3:c.1422T>C
NP_001010932.1:p.Asn474=