Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137158711G>C , CM000671.2:g.137158711G>C	GRCh38
NC_000009.11:g.140053163G>C , CM000671.1:g.140053163G>C	GRCh37
NC_000009.10:g.139172984G>C	NCBI36
NG_011507.1:g.24555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371553.8:c.1260+7G>C	ENSP00000360608.3:n.1260+7G>C
ENST00000371560.5:c.1260+7G>C	ENSP00000360615.3:n.1260+7G>C
ENST00000371561.8:c.1197+7G>C MANE Select	ENSP00000360616.3:n.1197+7G>C
ENST00000675295.1:n.627+7G>C
ENST00000676396.1:n.2714G>C
ENST00000350902.9:c.*172+7G>C	ENSP00000316915.9:n.*172+7G>C
ENST00000371546.8:c.1260+7G>C	ENSP00000360601.4:n.1260+7G>C
ENST00000371550.8:c.1197+7G>C	ENSP00000360605.4:n.1197+7G>C
ENST00000371553.7:c.1260+7G>C	ENSP00000360608.3:n.1260+7G>C
ENST00000371555.8:c.1260+7G>C	ENSP00000360610.4:n.1260+7G>C
ENST00000371559.8:c.1197+7G>C	ENSP00000360614.4:n.1197+7G>C
ENST00000371560.4:c.1260+7G>C	ENSP00000360615.3:n.1260+7G>C
ENST00000371561.7:c.1197+7G>C	ENSP00000360616.3:n.1197+7G>C
ENST00000471122.5:n.1274+7G>C
ENST00000485413.1:n.395G>C
NM_000832.6:c.1197+7G>C	NP_000823.4:n.1197+7G>C
NM_001185090.1:c.1260+7G>C	NP_001172019.1:n.1260+7G>C
NM_001185091.1:c.1260+7G>C	NP_001172020.1:n.1260+7G>C
NM_007327.3:c.1197+7G>C	NP_015566.1:n.1197+7G>C
NM_021569.3:c.1197+7G>C	NP_067544.1:n.1197+7G>C
XM_005266071.2:c.1197+7G>C	XP_005266128.1:n.1197+7G>C
XM_005266072.2:c.1260+7G>C	XP_005266129.1:n.1260+7G>C
XM_005266073.3:c.1260+7G>C	XP_005266130.1:n.1260+7G>C
XM_011518583.1:c.1260+7G>C	XP_011516885.1:n.1260+7G>C
XM_005266071.3:c.1197+7G>C	XP_005266128.1:n.1197+7G>C
XM_005266072.3:c.1260+7G>C	XP_005266129.1:n.1260+7G>C
XM_005266073.4:c.1260+7G>C	XP_005266130.1:n.1260+7G>C
XM_011518583.2:c.1260+7G>C	XP_011516885.1:n.1260+7G>C
NM_007327.4:c.1197+7G>C MANE Select	NP_015566.1:n.1197+7G>C
NM_000832.7:c.1197+7G>C	NP_000823.4:n.1197+7G>C
NM_001185090.2:c.1260+7G>C	NP_001172019.1:n.1260+7G>C
NM_001185091.2:c.1260+7G>C	NP_001172020.1:n.1260+7G>C
NM_021569.4:c.1197+7G>C	NP_067544.1:n.1197+7G>C