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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.159034302G>A , CM000669.2:g.159034302G>A
GRCh38
NC_000007.13:g.158826993G>A , CM000669.1:g.158826993G>A
GRCh37
NC_000007.12:g.158519754G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262178.7:c.882C>T
MANE Select
ENSP00000262178.2:p.Val294=
ENST00000262178.6:c.882C>T
ENSP00000262178.2:p.Val294=
ENST00000377633.7:c.834C>T
ENSP00000366860.3:p.Val278=
ENST00000402066.5:c.1305C>T
ENSP00000384497.1:p.Val435=
NM_001304522.1:c.642C>T
NP_001291451.1:p.Val214=
NM_001308259.1:c.834C>T
NP_001295188.1:p.Val278=
NM_003382.4:c.882C>T
NP_003373.2:p.Val294=
NR_130758.1:n.1068C>T
XM_005249561.2:c.957C>T
XP_005249618.1:p.Val319=
XM_006716107.1:c.882C>T
XP_006716170.1:p.Val294=
XM_006716108.2:c.693C>T
XP_006716171.1:p.Val231=
XM_011516550.1:c.834C>T
XP_011514852.1:p.Val278=
XM_011516552.1:c.468C>T
XP_011514854.1:p.Val156=
XM_005249561.3:c.957C>T
XP_005249618.1:p.Val319=
XM_006716107.2:c.882C>T
XP_006716170.1:p.Val294=
XM_006716108.3:c.693C>T
XP_006716171.1:p.Val231=
XM_011516550.2:c.834C>T
XP_011514852.1:p.Val278=
XM_017012580.1:c.468C>T
XP_016868069.1:p.Val156=
XM_024446914.1:c.957C>T
XP_024302682.1:p.Val319=
XM_024446915.1:c.957C>T
XP_024302683.1:p.Val319=
XM_024446916.1:c.882C>T
XP_024302684.1:p.Val294=
XM_024446917.1:c.693C>T
XP_024302685.1:p.Val231=
XM_024446918.1:c.468C>T
XP_024302686.1:p.Val156=
NM_003382.5:c.882C>T
MANE Select
NP_003373.2:p.Val294=
NM_001304522.2:c.642C>T
NP_001291451.1:p.Val214=
NR_130758.2:n.978C>T