Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47007240G>C , CM000665.2:g.47007240G>C	GRCh38
NC_000003.11:g.47048730G>C , CM000665.1:g.47048730G>C	GRCh37
NC_000003.10:g.47023734G>C	NCBI36
NG_031914.1:g.32558G>C , LRG_568:g.32558G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.7225-1G>C MANE Select	NP_055990.1:n.7225-1G>C
ENST00000450053.8:c.7225-1G>C MANE Select	ENSP00000415034.2:n.7225-1G>C
NM_001365116.1:c.7123-1G>C	NP_001352045.1:n.7123-1G>C
NM_001365116.2:c.7123-1G>C	NP_001352045.1:n.7123-1G>C
NM_015175.2:c.7225-1G>C , LRG_568t1:c.7225-1G>C	NP_055990.1:n.7225-1G>C
ENST00000416683.5:c.5088-1G>C
ENST00000423436.1:c.616-285G>C	ENSP00000415063.1:n.616-285G>C
ENST00000443829.5:c.2240-1G>C
ENST00000450053.7:c.7225-1G>C	ENSP00000415034.2:n.7225-1G>C
ENST00000461036.1:n.40-1G>C
ENST00000476095.5:n.190G>C
ENST00000651453.1:n.2097G>C
ENST00000651747.1:c.7123-1G>C	ENSP00000499216.1:n.7123-1G>C
XM_005264992.2:c.7123-1G>C	XP_005265049.1:n.7123-1G>C
XM_005264993.2:c.3697-1G>C	XP_005265050.1:n.3697-1G>C
XM_006713072.2:c.7144-1G>C	XP_006713135.1:n.7144-1G>C
XM_006713072.3:c.7144-1G>C	XP_006713135.1:n.7144-1G>C
XM_011533532.1:c.7204-1G>C	XP_011531834.1:n.7204-1G>C
XM_011533533.1:c.7135-1G>C	XP_011531835.1:n.7135-1G>C
XM_011533533.2:c.7135-1G>C	XP_011531835.1:n.7135-1G>C
XM_011533534.1:c.6856-1G>C	XP_011531836.1:n.6856-1G>C
XM_011533535.1:c.6685-1G>C	XP_011531837.1:n.6685-1G>C
XM_011533536.1:c.6571-1G>C	XP_011531838.1:n.6571-1G>C
XM_011533537.1:c.6133-1G>C	XP_011531839.1:n.6133-1G>C
XM_017006010.1:c.7225-1G>C	XP_016861499.1:n.7225-1G>C
XM_017006011.1:c.7204-1G>C	XP_016861500.1:n.7204-1G>C
XM_017006012.1:c.7144-1G>C	XP_016861501.1:n.7144-1G>C
XM_017006013.1:c.7135-1G>C	XP_016861502.1:n.7135-1G>C
XM_017006014.1:c.7123-1G>C	XP_016861503.1:n.7123-1G>C
XM_017006015.1:c.6856-1G>C	XP_016861504.1:n.6856-1G>C
XM_017006016.1:c.6685-1G>C	XP_016861505.1:n.6685-1G>C
XM_017006017.1:c.3697-1G>C	XP_016861506.1:n.3697-1G>C
XR_940397.1:n.7311-285G>C
XR_940397.2:n.7311-285G>C