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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.124968631G>A , CM000674.2:g.124968631G>A
GRCh38
NC_000012.11:g.125453177G>A , CM000674.1:g.125453177G>A
GRCh37
NC_000012.10:g.124019130G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000308736.7:c.1311C>T
MANE Select
ENSP00000311135.2:p.Phe437=
ENST00000544745.2:c.782C>T
ENST00000679875.1:n.1383C>T
ENST00000308736.6:c.1311C>T
ENSP00000311135.2:p.Phe437=
ENST00000539298.1:n.1411C>T
ENST00000544745.1:c.672C>T
ENSP00000439009.1:p.Phe224=
NM_032656.3:c.1311C>T
NP_116045.2:p.Phe437=
XM_005253590.2:c.1311C>T
XP_005253647.1:p.Phe437=
XM_011538597.1:c.1311C>T
XP_011536899.1:p.Phe437=
XM_011538598.1:c.1311C>T
XP_011536900.1:p.Phe437=
XM_011538599.1:c.1311C>T
XP_011536901.1:p.Phe437=
XM_011538600.1:c.1311C>T
XP_011536902.1:p.Phe437=
XM_005253590.3:c.1311C>T
XP_005253647.1:p.Phe437=
XM_011538598.2:c.1311C>T
XP_011536900.1:p.Phe437=
XM_011538600.2:c.1311C>T
XP_011536902.1:p.Phe437=
XR_001748819.1:n.1414C>T
XR_001748820.1:n.1414C>T
NM_032656.4:c.1311C>T
MANE Select
NP_116045.2:p.Phe437=