Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68161716T>C , CM000672.2:g.68161716T>C	GRCh38
NC_000010.10:g.69921473T>C , CM000672.1:g.69921473T>C	GRCh37
NC_000010.9:g.69591479T>C	NCBI36
NG_032118.1:g.60600T>C , LRG_410:g.60600T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032578.4:c.1460-13T>C MANE Select	NP_115967.2:n.1460-13T>C
ENST00000358913.10:c.1460-13T>C MANE Select	ENSP00000351790.5:n.1460-13T>C
NM_001256267.1:c.1460-13T>C	NP_001243196.1:n.1460-13T>C
NM_001256267.2:c.1460-13T>C	NP_001243196.1:n.1460-13T>C
NM_001256268.1:c.578-13T>C	NP_001243197.1:n.578-13T>C
NM_001256268.2:c.578-13T>C	NP_001243197.1:n.578-13T>C
NM_032578.3:c.1460-13T>C , LRG_410t1:c.1460-13T>C	NP_115967.2:n.1460-13T>C
NR_045662.3:n.887-13T>C
NR_045662.4:n.997-13T>C
NR_045663.3:n.1751+3089T>C
NR_045663.4:n.1696+3089T>C
ENST00000354393.6:c.635-13T>C	ENSP00000346369.2:n.635-13T>C
ENST00000354393.7:c.635-13T>C	ENSP00000346369.2:n.635-13T>C
ENST00000358913.9:c.1460-13T>C	ENSP00000351790.5:n.1460-13T>C
ENST00000373675.3:c.1460-13T>C	ENSP00000362779.3:n.1460-13T>C
ENST00000373675.4:c.1460-13T>C	ENSP00000362779.4:n.1460-13T>C
ENST00000540630.5:c.1460-13T>C	ENSP00000441668.2:n.1460-13T>C
ENST00000540630.6:c.1514-13T>C	ENSP00000441668.3:n.1514-13T>C
ENST00000613327.4:c.578-13T>C	ENSP00000480757.1:n.578-13T>C
ENST00000613327.5:c.1460-13T>C	ENSP00000480757.2:n.1460-13T>C
ENST00000686289.1:n.671-13T>C
ENST00000687572.1:c.338-13T>C	ENSP00000510427.1:n.338-13T>C
ENST00000687705.1:c.*1709-13T>C	ENSP00000509639.1:n.*1709-13T>C
ENST00000688812.1:c.1459+3089T>C	ENSP00000510658.1:n.1459+3089T>C
ENST00000689002.1:n.512-13T>C
ENST00000689218.1:n.1689-13T>C
ENST00000690544.1:c.*731-13T>C	ENSP00000508989.1:n.*731-13T>C
ENST00000693699.1:c.443-13T>C
XM_006718043.2:c.1514-13T>C	XP_006718106.1:n.1514-13T>C
XM_011540292.1:c.1513+3089T>C	XP_011538594.1:n.1513+3089T>C
XM_017016833.1:c.1538-13T>C	XP_016872322.1:n.1538-13T>C
XM_017016834.2:c.1460-13T>C	XP_016872323.1:n.1460-13T>C
XM_024448236.1:c.338-13T>C	XP_024304004.1:n.338-13T>C