Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209952535T>C , CM000663.2:g.209952535T>C	GRCh38
NC_000001.10:g.210125880T>C , CM000663.1:g.210125880T>C	GRCh37
NC_000001.9:g.208192503T>C	NCBI36
NG_031962.1:g.19362T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001146262.4:c.14-174T>C MANE Select	NP_001139734.1:n.14-174T>C
ENST00000367019.6:c.14-174T>C MANE Select	ENSP00000355986.1:n.14-174T>C
NM_001146261.2:c.28-174T>C	NP_001139733.1:n.28-174T>C
NM_001146261.3:c.28-174T>C	NP_001139733.1:n.28-174T>C
NM_001146261.4:c.28-174T>C	NP_001139733.1:n.28-174T>C
NM_001146262.2:c.14-174T>C	NP_001139734.1:n.14-174T>C
NM_001146262.3:c.14-174T>C	NP_001139734.1:n.14-174T>C
NM_001146264.2:c.28-174T>C	NP_001139736.1:n.28-174T>C
NM_001146264.3:c.28-174T>C	NP_001139736.1:n.28-174T>C
NM_001146264.4:c.28-174T>C	NP_001139736.1:n.28-174T>C
NM_001256006.1:c.-306-174T>C	NP_001242935.1:n.-306-174T>C
NM_001256006.2:c.-306-174T>C	NP_001242935.1:n.-306-174T>C
NM_001256006.3:c.-306-174T>C	NP_001242935.1:n.-306-174T>C
NM_001397544.1:c.-1036-174T>C	NP_001384473.1:n.-1036-174T>C
NM_001397545.1:c.-1241-174T>C	NP_001384474.1:n.-1241-174T>C
NM_153262.3:c.14-174T>C	NP_694994.2:n.14-174T>C
NM_153262.4:c.14-174T>C	NP_694994.2:n.14-174T>C
NM_153262.5:c.14-174T>C	NP_694994.2:n.14-174T>C
NR_027459.2:n.105-174T>C
NR_027459.3:n.62-174T>C
ENST00000367019.5:c.14-174T>C	ENSP00000355986.1:n.14-174T>C
ENST00000399639.6:c.-306-174T>C	ENSP00000445837.2:n.-306-174T>C
ENST00000472886.5:c.14-174T>C	ENSP00000418901.1:n.14-174T>C
ENST00000537238.5:c.-306-174T>C	ENSP00000437423.1:n.-306-174T>C
ENST00000629778.2:c.28-174T>C	ENSP00000486230.1:n.28-174T>C
ENST00000637265.1:c.-533-174T>C	ENSP00000489897.1:n.-533-174T>C
ENST00000637945.1:c.14-174T>C	ENSP00000489671.1:n.14-174T>C
ENST00000652023.1:n.52-174T>C
ENST00000699295.1:c.-1241-174T>C	ENSP00000514275.1:n.-1241-174T>C
XM_017000932.2:c.-306-174T>C	XP_016856421.1:n.-306-174T>C
XM_017000933.2:c.-242-174T>C	XP_016856422.1:n.-242-174T>C
XM_017000935.2:c.-423-174T>C	XP_016856424.1:n.-423-174T>C