Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163825G>T , CM000674.2:g.56163825G>T	GRCh38
NC_000012.11:g.56557609G>T , CM000674.1:g.56557609G>T	GRCh37
NC_000012.10:g.54843876G>T	NCBI36
NG_047081.1:g.30743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3662-60C>A MANE Select	ENSP00000449396.1:n.3662-60C>A
ENST00000267064.8:c.3569-60C>A	ENSP00000267064.4:n.3569-60C>A
ENST00000347471.8:c.3317-60C>A	ENSP00000302919.4:n.3317-60C>A
ENST00000394023.7:c.3383-60C>A	ENSP00000377591.3:n.3383-60C>A
ENST00000550164.5:c.3662-60C>A	ENSP00000449396.1:n.3662-60C>A
ENST00000552674.5:c.*2980-60C>A	ENSP00000447680.1:n.*2980-60C>A
NM_001130420.1:c.3383-60C>A	NP_001123892.1:n.3383-60C>A
NM_003075.3:c.3569-60C>A	NP_003066.2:n.3569-60C>A
NM_139067.2:c.3317-60C>A	NP_620706.1:n.3317-60C>A
XM_005269101.1:c.3662-60C>A	XP_005269158.1:n.3662-60C>A
XM_005269102.1:c.3659-60C>A	XP_005269159.1:n.3659-60C>A
XM_005269103.1:c.3566-60C>A	XP_005269160.1:n.3566-60C>A
XM_005269104.1:c.3380-60C>A	XP_005269161.1:n.3380-60C>A
XM_011538693.1:c.2909-60C>A	XP_011536995.1:n.2909-60C>A
NM_001130420.2:c.3383-60C>A	NP_001123892.1:n.3383-60C>A
NM_001330288.1:c.3662-60C>A	NP_001317217.1:n.3662-60C>A
NM_003075.4:c.3569-60C>A	NP_003066.2:n.3569-60C>A
NM_139067.3:c.3317-60C>A	NP_620706.1:n.3317-60C>A
XM_005269102.2:c.3659-60C>A	XP_005269159.1:n.3659-60C>A
XM_005269103.2:c.3566-60C>A	XP_005269160.1:n.3566-60C>A
XM_011538693.3:c.2909-60C>A	XP_011536995.1:n.2909-60C>A
XM_017019884.1:c.3314-60C>A	XP_016875373.1:n.3314-60C>A
XM_017019885.1:c.3290-60C>A	XP_016875374.1:n.3290-60C>A
XM_017019886.1:c.3224-60C>A	XP_016875375.1:n.3224-60C>A
XM_017019887.2:c.2816-60C>A	XP_016875376.1:n.2816-60C>A
XR_002957373.1:n.3446-60C>A
XR_002957374.1:n.3167-60C>A
NM_001330288.2:c.3662-60C>A MANE Select	NP_001317217.1:n.3662-60C>A
NM_001130420.3:c.3383-60C>A	NP_001123892.1:n.3383-60C>A
NM_003075.5:c.3569-60C>A	NP_003066.2:n.3569-60C>A
NM_139067.4:c.3317-60C>A	NP_620706.1:n.3317-60C>A

Linked Data

Genomic Alleles

Transcript Alleles