Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76462718T>C , CM000676.2:g.76462718T>C	GRCh38
NC_000014.8:g.76929061T>C , CM000676.1:g.76929061T>C	GRCh37
NC_000014.7:g.75998814T>C	NCBI36
NG_012278.1:g.96372T>C
NG_012278.2:g.96372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.514+57T>C	ENSP00000370270.2:n.514+57T>C
ENST00000505752.6:c.514+57T>C	ENSP00000423004.1:n.514+57T>C
ENST00000512784.6:c.529+57T>C	ENSP00000424992.2:n.529+57T>C
ENST00000644823.1:c.577+57T>C MANE Select	ENSP00000493776.1:n.577+57T>C
ENST00000380887.6:c.514+57T>C	ENSP00000370270.2:n.514+57T>C
ENST00000505752.5:c.514+57T>C	ENSP00000423004.1:n.514+57T>C
ENST00000507951.5:n.622+57T>C
ENST00000509242.5:c.514+57T>C	ENSP00000422488.1:n.514+57T>C
ENST00000509323.1:n.226+57T>C
ENST00000512784.5:c.529+57T>C	ENSP00000424992.1:n.529+57T>C
ENST00000556177.1:c.514+57T>C	ENSP00000451658.1:n.514+57T>C
NM_004452.3:c.514+57T>C	NP_004443.3:n.514+57T>C
XM_005267404.2:c.577+57T>C	XP_005267461.1:n.577+57T>C
XM_011536547.1:c.577+57T>C	XP_011534849.1:n.577+57T>C
XM_011536548.1:c.514+57T>C	XP_011534850.1:n.514+57T>C
XM_011536549.1:c.514+57T>C	XP_011534851.1:n.514+57T>C
XM_011536550.1:c.514+57T>C	XP_011534852.1:n.514+57T>C
XM_011536551.1:c.514+57T>C	XP_011534853.1:n.514+57T>C
XM_011536552.1:c.514+57T>C	XP_011534854.1:n.514+57T>C
XM_011536553.1:c.577+57T>C	XP_011534855.1:n.577+57T>C
XM_011536554.1:c.577+57T>C	XP_011534856.1:n.577+57T>C
XR_943401.1:n.824+57T>C
XM_011536547.2:c.577+57T>C	XP_011534849.1:n.577+57T>C
XM_011536550.2:c.514+57T>C	XP_011534852.1:n.514+57T>C
XM_011536553.2:c.577+57T>C	XP_011534855.1:n.577+57T>C
XM_011536554.2:c.577+57T>C	XP_011534856.1:n.577+57T>C
XM_017021085.1:c.514+57T>C	XP_016876574.1:n.514+57T>C
XM_024449508.1:c.577+57T>C	XP_024305276.1:n.577+57T>C
XM_024449509.1:c.514+57T>C	XP_024305277.1:n.514+57T>C
XR_001750189.1:n.1047+57T>C
XR_943401.2:n.1047+57T>C
NM_001379180.1:c.577+57T>C MANE Select	NP_001366109.1:n.577+57T>C
NM_004452.4:c.514+57T>C	NP_004443.3:n.514+57T>C