Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136033091T>C , CM000685.2:g.136033091T>C	GRCh38
NC_000023.10:g.135115250T>C , CM000685.1:g.135115250T>C	GRCh37
NC_000023.9:g.134942916T>C	NCBI36
NG_017160.1:g.52665T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001379110.1:c.1582-323T>C MANE Select	NP_001366039.1:n.1582-323T>C
ENST00000630721.3:c.1582-323T>C MANE Select	ENSP00000487486.2:n.1582-323T>C
NM_001042537.1:c.1648-323T>C	NP_001036002.1:n.1648-323T>C
NM_001042537.2:c.1648-323T>C	NP_001036002.1:n.1648-323T>C
NM_001177651.1:c.1492-323T>C	NP_001171122.1:n.1492-323T>C
NM_001177651.2:c.1492-323T>C	NP_001171122.1:n.1492-323T>C
NM_001330652.1:c.1396-323T>C	NP_001317581.1:n.1396-323T>C
NM_001330652.2:c.1396-323T>C	NP_001317581.1:n.1396-323T>C
NM_001400909.1:c.1492-323T>C	NP_001387838.1:n.1492-323T>C
NM_001400910.1:c.1492-323T>C	NP_001387839.1:n.1492-323T>C
NM_001400911.1:c.1492-323T>C	NP_001387840.1:n.1492-323T>C
NM_001400912.1:c.1492-323T>C	NP_001387841.1:n.1492-323T>C
NM_001400913.1:c.1396-323T>C	NP_001387842.1:n.1396-323T>C
NM_006359.2:c.1552-323T>C	NP_006350.1:n.1552-323T>C
NM_006359.3:c.1552-323T>C	NP_006350.1:n.1552-323T>C
ENST00000370695.6:c.1648-323T>C	ENSP00000359729.4:n.1648-323T>C
ENST00000370695.8:c.1648-323T>C	ENSP00000359729.4:n.1648-323T>C
ENST00000370698.7:c.1552-323T>C	ENSP00000359732.3:n.1552-323T>C
ENST00000370701.5:c.1492-323T>C	ENSP00000359735.1:n.1492-323T>C
ENST00000370701.6:c.1492-323T>C	ENSP00000359735.1:n.1492-323T>C
ENST00000626147.1:n.58T>C
ENST00000630721.1:c.228-323T>C
ENST00000636092.1:c.1492-323T>C	ENSP00000490406.1:n.1492-323T>C
ENST00000636206.2:n.822-323T>C
ENST00000636347.1:c.1492-323T>C	ENSP00000490648.1:n.1492-323T>C
ENST00000636625.1:n.483-323T>C
ENST00000636798.1:n.927-323T>C
ENST00000637195.1:c.1396-323T>C	ENSP00000490330.1:n.1396-323T>C
ENST00000637234.1:c.1492-323T>C	ENSP00000490527.1:n.1492-323T>C
ENST00000637581.1:c.1492-323T>C	ENSP00000490731.1:n.1492-323T>C
ENST00000638078.1:c.59+2929T>C
ENST00000675856.1:n.1435-323T>C
ENST00000678163.1:c.1738-323T>C	ENSP00000502845.1:n.1738-323T>C
XM_006724726.2:c.1492-323T>C	XP_006724789.1:n.1492-323T>C
XM_006724726.3:c.1492-323T>C	XP_006724789.1:n.1492-323T>C
XM_011531243.1:c.1396-323T>C	XP_011529545.1:n.1396-323T>C
XM_017029223.2:c.1492-323T>C	XP_016884712.1:n.1492-323T>C
XM_017029224.1:c.1492-323T>C	XP_016884713.1:n.1492-323T>C
XM_017029225.1:c.1396-323T>C	XP_016884714.1:n.1396-323T>C