Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146086785A>G , CM000665.2:g.146086785A>G	GRCh38
NC_000003.11:g.145804572A>G , CM000665.1:g.145804572A>G	GRCh37
NC_000003.10:g.147287262A>G	NCBI36
NG_009251.1:g.79711T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000469350.6:c.1043+2T>C	ENSP00000419963.2:n.1043+2T>C
ENST00000480704.2:c.*891+2T>C	ENSP00000419880.1:n.*891+2T>C
ENST00000703517.1:n.579+15970T>C
ENST00000703518.1:c.1127+2T>C	ENSP00000515350.1:n.1127+2T>C
ENST00000703519.1:n.1144+2T>C
ENST00000703520.1:c.1127+2T>C	ENSP00000515351.1:n.1127+2T>C
ENST00000703521.1:c.*479+2T>C	ENSP00000515352.1:n.*479+2T>C
ENST00000703522.1:c.1127+2T>C	ENSP00000515353.1:n.1127+2T>C
ENST00000703523.1:c.1127+2T>C	ENSP00000515354.1:n.1127+2T>C
ENST00000703524.1:n.650+2T>C
ENST00000703525.1:n.1322+2T>C
ENST00000703526.1:n.495+2T>C
ENST00000703527.1:c.1127+2T>C	ENSP00000515355.1:n.1127+2T>C
ENST00000703528.1:c.962+2T>C	ENSP00000515356.1:n.962+2T>C
ENST00000703529.1:n.1322+2T>C
ENST00000706626.1:c.1127+2T>C	ENSP00000516472.1:n.1127+2T>C
ENST00000706634.1:n.1322+2T>C
ENST00000706635.1:c.1127+2T>C	ENSP00000516475.1:n.1127+2T>C
ENST00000706636.1:c.*479+2T>C	ENSP00000516476.1:n.*479+2T>C
ENST00000282903.10:c.1127+2T>C MANE Select	ENSP00000282903.5:n.1127+2T>C
ENST00000282903.9:c.1127+2T>C	ENSP00000282903.5:n.1127+2T>C
ENST00000360060.7:c.1127+2T>C	ENSP00000353170.3:n.1127+2T>C
ENST00000460520.1:n.352+2T>C
ENST00000494950.5:c.962+2T>C	ENSP00000420094.1:n.962+2T>C
NM_000935.2:c.1127+2T>C	NP_000926.2:n.1127+2T>C
NM_182943.2:c.1127+2T>C	NP_891988.1:n.1127+2T>C
XM_005247535.3:c.851+2T>C	XP_005247592.1:n.851+2T>C
XM_005247536.3:c.1127+2T>C	XP_005247593.1:n.1127+2T>C
XM_005247535.4:c.851+2T>C	XP_005247592.1:n.851+2T>C
XM_017006625.2:c.851+2T>C	XP_016862114.1:n.851+2T>C
XM_024453599.1:c.851+2T>C	XP_024309367.1:n.851+2T>C
XR_001740176.2:n.1322+2T>C
NM_182943.3:c.1127+2T>C MANE Select	NP_891988.1:n.1127+2T>C
NM_000935.3:c.1127+2T>C	NP_000926.2:n.1127+2T>C

Linked Data

Genomic Alleles

Transcript Alleles