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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.124968619C>T , CM000674.2:g.124968619C>T
GRCh38
NC_000012.11:g.125453165C>T , CM000674.1:g.125453165C>T
GRCh37
NC_000012.10:g.124019118C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000308736.7:c.1323G>A
MANE Select
ENSP00000311135.2:p.Val441=
ENST00000544745.2:c.794G>A
ENST00000679875.1:n.1395G>A
ENST00000308736.6:c.1323G>A
ENSP00000311135.2:p.Val441=
ENST00000539298.1:n.1423G>A
ENST00000544745.1:c.684G>A
ENSP00000439009.1:p.Val228=
NM_032656.3:c.1323G>A
NP_116045.2:p.Val441=
XM_005253590.2:c.1323G>A
XP_005253647.1:p.Val441=
XM_011538597.1:c.1323G>A
XP_011536899.1:p.Val441=
XM_011538598.1:c.1323G>A
XP_011536900.1:p.Val441=
XM_011538599.1:c.1323G>A
XP_011536901.1:p.Val441=
XM_011538600.1:c.1323G>A
XP_011536902.1:p.Val441=
XM_005253590.3:c.1323G>A
XP_005253647.1:p.Val441=
XM_011538598.2:c.1323G>A
XP_011536900.1:p.Val441=
XM_011538600.2:c.1323G>A
XP_011536902.1:p.Val441=
XR_001748819.1:n.1426G>A
XR_001748820.1:n.1426G>A
NM_032656.4:c.1323G>A
MANE Select
NP_116045.2:p.Val441=