Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236874861T>C , CM000663.2:g.236874861T>C	GRCh38
NC_000001.10:g.237038161T>C , CM000663.1:g.237038161T>C	GRCh37
NC_000001.9:g.235104784T>C	NCBI36
NG_008959.1:g.84581T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2594+15T>C MANE Select	ENSP00000355536.5:n.2594+15T>C
ENST00000535889.6:c.2441+15T>C	ENSP00000441845.1:n.2441+15T>C
ENST00000650888.1:c.*1636+15T>C	ENSP00000498393.1:n.*1636+15T>C
ENST00000651455.1:c.*1338+15T>C	ENSP00000498963.1:n.*1338+15T>C
ENST00000674797.2:c.2246+15T>C	ENSP00000502299.2:n.2246+15T>C
ENST00000679569.1:n.2908+15T>C
ENST00000679842.1:c.2406-5894T>C	ENSP00000506109.1:n.2406-5894T>C
ENST00000680454.1:n.3038+15T>C
ENST00000681102.1:c.2414+15T>C	ENSP00000505600.1:n.2414+15T>C
ENST00000681177.1:c.2156+15T>C	ENSP00000506327.1:n.2156+15T>C
ENST00000681937.1:n.2788+15T>C
ENST00000366576.3:c.1256+15T>C	ENSP00000355535.3:n.1256+15T>C
ENST00000366577.9:c.2594+15T>C	ENSP00000355536.5:n.2594+15T>C
ENST00000535889.5:c.2441+15T>C	ENSP00000441845.1:n.2441+15T>C
NM_000254.2:c.2594+15T>C	NP_000245.2:n.2594+15T>C
NM_001291939.1:c.2441+15T>C	NP_001278868.1:n.2441+15T>C
NM_001291940.1:c.1373+15T>C	NP_001278869.1:n.1373+15T>C
XM_005273141.3:c.2591+15T>C	XP_005273198.1:n.2591+15T>C
XM_006711769.2:c.2594+15T>C	XP_006711832.1:n.2594+15T>C
XM_006711770.1:c.1658+15T>C	XP_006711833.1:n.1658+15T>C
XM_011544193.1:c.2406-5894T>C	XP_011542495.1:n.2406-5894T>C
XM_011544194.1:c.2762+15T>C	XP_011542496.1:n.2762+15T>C
XM_005273141.5:c.2591+15T>C	XP_005273198.1:n.2591+15T>C
XM_006711770.3:c.1658+15T>C	XP_006711833.1:n.1658+15T>C
XM_011544194.3:c.2762+15T>C	XP_011542496.1:n.2762+15T>C
XM_017001329.2:c.2609+15T>C	XP_016856818.1:n.2609+15T>C
XM_017001330.2:c.2574-5894T>C	XP_016856819.1:n.2574-5894T>C
NM_001291940.2:c.1373+15T>C	NP_001278869.1:n.1373+15T>C
NM_000254.3:c.2594+15T>C MANE Select	NP_000245.2:n.2594+15T>C

Linked Data

Genomic Alleles

Transcript Alleles