Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111007291C>T , CM000672.2:g.111007291C>T	GRCh38
NC_000010.10:g.112767049C>T , CM000672.1:g.112767049C>T	GRCh37
NC_000010.9:g.112757039C>T	NCBI36
NG_028922.1:g.92749C>T , LRG_753:g.92749C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007373.4:c.1162-240C>T MANE Select	NP_031399.2:n.1162-240C>T
ENST00000369452.9:c.1162-240C>T MANE Select	ENSP00000358464.5:n.1162-240C>T
NM_001269039.1:c.1024-240C>T	NP_001255968.1:n.1024-240C>T
NM_001269039.2:c.1024-240C>T	NP_001255968.1:n.1024-240C>T
NM_001269039.3:c.1024-240C>T	NP_001255968.1:n.1024-240C>T
NM_001324336.1:c.1162-240C>T	NP_001311265.1:n.1162-240C>T
NM_001324336.2:c.1162-240C>T	NP_001311265.1:n.1162-240C>T
NM_001324337.1:c.1162-240C>T	NP_001311266.1:n.1162-240C>T
NM_001324337.2:c.1162-240C>T	NP_001311266.1:n.1162-240C>T
NM_007373.3:c.1162-240C>T , LRG_753t1:c.1162-240C>T	NP_031399.2:n.1162-240C>T
NR_136749.1:n.574-240C>T
NR_136749.2:n.513-240C>T
ENST00000265277.10:c.1024-240C>T	ENSP00000265277.5:n.1024-240C>T
ENST00000265277.9:c.1024-240C>T	ENSP00000265277.5:n.1024-240C>T
ENST00000369452.8:c.1162-240C>T	ENSP00000358464.4:n.1162-240C>T
ENST00000451838.1:c.532-240C>T	ENSP00000408275.1:n.532-240C>T
ENST00000451838.2:c.79-240C>T	ENSP00000408275.2:n.79-240C>T
ENST00000489390.1:n.376-240C>T
ENST00000685059.1:c.1162-240C>T	ENSP00000510210.1:n.1162-240C>T
ENST00000685613.1:c.*158-240C>T	ENSP00000510564.1:n.*158-240C>T
ENST00000687592.1:n.1461-240C>T
ENST00000688928.1:c.1162-240C>T	ENSP00000509273.1:n.1162-240C>T
ENST00000689118.1:c.1162-240C>T	ENSP00000510554.1:n.1162-240C>T
ENST00000689300.1:c.1162-240C>T	ENSP00000510639.1:n.1162-240C>T
ENST00000689997.1:c.79-240C>T	ENSP00000510700.1:n.79-240C>T
ENST00000691369.1:c.1162-240C>T	ENSP00000509754.1:n.1162-240C>T
ENST00000691441.1:c.1162-240C>T	ENSP00000509686.1:n.1162-240C>T
ENST00000691903.1:c.1162-240C>T	ENSP00000510314.1:n.1162-240C>T
ENST00000692776.1:c.1162-240C>T	ENSP00000508524.1:n.1162-240C>T
XM_011540216.1:c.79-240C>T	XP_011538518.1:n.79-240C>T