Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73953475C>T , CM000676.2:g.73953475C>T	GRCh38
NC_000014.8:g.74420178C>T , CM000676.1:g.74420178C>T	GRCh37
NC_000014.7:g.73489931C>T	NCBI36
NG_032805.1:g.8542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.204C>T MANE Select	ENSP00000333946.2:p.Leu68=
ENST00000238709.8:c.201C>T	ENSP00000238709.5:p.Leu67=
ENST00000334571.6:c.204C>T	ENSP00000333946.2:p.Leu68=
ENST00000394026.8:c.129C>T	ENSP00000377594.4:p.Leu43=
ENST00000553462.6:n.111C>T
ENST00000553922.5:n.329C>T
ENST00000554153.5:c.204C>T	ENSP00000451685.1:p.Leu68=
ENST00000554193.5:n.227C>T
ENST00000554217.5:n.227C>T
ENST00000554320.1:c.38C>T	ENSP00000451123.1:p.Ser13Leu
ENST00000554341.6:c.129C>T	ENSP00000450736.2:p.Leu43=
ENST00000554920.5:c.204C>T	ENSP00000451562.1:p.Leu68=
ENST00000555196.5:c.38C>T	ENSP00000451301.1:p.Ser13Leu
ENST00000555392.1:n.38C>T
ENST00000555552.5:n.227C>T
ENST00000556300.6:n.238C>T
ENST00000557205.6:n.227C>T
ENST00000557584.5:c.204C>T	ENSP00000450511.1:p.Leu68=
ENST00000629426.2:c.38C>T	ENSP00000486650.1:p.Ser13Leu
NM_182476.2:c.204C>T	NP_872282.1:p.Leu68=
NM_182480.2:c.129C>T	NP_872286.2:p.Leu43=
XM_005267716.1:c.98C>T	XP_005267773.1:p.Ser33Leu
XM_006720156.1:c.-124C>T	XP_006720219.1:n.-124C>T
XM_011536807.1:c.204C>T	XP_011535109.1:p.Leu68=
XM_011536808.1:c.38C>T	XP_011535110.1:p.Ser13Leu
XM_011536809.1:c.38C>T	XP_011535111.1:p.Ser13Leu
XM_011536810.1:c.204C>T	XP_011535112.1:p.Leu68=
XR_943465.1:n.257C>T
XR_943466.1:n.257C>T
XM_011536807.2:c.204C>T	XP_011535109.1:p.Leu68=
XM_011536808.2:c.38C>T	XP_011535110.1:p.Ser13Leu
XM_011536809.3:c.38C>T	XP_011535111.1:p.Ser13Leu
XM_011536810.3:c.204C>T	XP_011535112.1:p.Leu68=
XM_017021351.2:c.-206C>T	XP_016876840.1:n.-206C>T
XM_017021352.2:c.-1037C>T	XP_016876841.1:n.-1037C>T
XM_024449619.1:c.-840C>T	XP_024305387.1:n.-840C>T
XR_001750342.1:n.227C>T
XR_943465.3:n.234C>T
XR_943466.3:n.234C>T
NM_182476.3:c.204C>T MANE Select	NP_872282.1:p.Leu68=
NM_182480.3:c.129C>T	NP_872286.2:p.Leu43=