Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080546C>G , CM000663.2:g.40080546C>G	GRCh38
NC_000001.10:g.40546218C>G , CM000663.1:g.40546218C>G	GRCh37
NC_000001.9:g.40318805C>G	NCBI36
NG_009192.1:g.21925G>C , LRG_690:g.21925G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*373-59G>C	ENSP00000361865.5:n.*373-59G>C
ENST00000433473.8:c.534-59G>C	ENSP00000394863.4:n.534-59G>C
ENST00000439754.6:c.537-59G>C	ENSP00000403207.2:n.537-59G>C
ENST00000449045.7:c.228-59G>C	ENSP00000392293.2:n.228-59G>C
ENST00000527311.7:c.306-59G>C	ENSP00000436695.3:n.306-59G>C
ENST00000530076.6:c.-121-59G>C	ENSP00000434007.1:n.-121-59G>C
ENST00000530704.6:c.*160-59G>C	ENSP00000431655.1:n.*160-59G>C
ENST00000641083.1:c.515-59G>C
ENST00000641236.1:n.774-59G>C
ENST00000641319.1:c.537-59G>C	ENSP00000493128.1:n.537-59G>C
ENST00000641381.1:c.149-3633G>C
ENST00000641471.1:c.624-59G>C	ENSP00000493146.1:n.624-59G>C
ENST00000641691.1:c.*389-59G>C	ENSP00000492910.1:n.*389-59G>C
ENST00000641924.1:c.125-59G>C	ENSP00000493063.1:n.125-59G>C
ENST00000642050.2:c.537-59G>C MANE Select	ENSP00000493153.1:n.537-59G>C
ENST00000372779.8:c.624-59G>C	ENSP00000361865.4:n.624-59G>C
ENST00000433473.7:c.537-59G>C	ENSP00000394863.3:n.537-59G>C
ENST00000439754.5:c.222-59G>C	ENSP00000403207.1:n.222-59G>C
ENST00000449045.6:c.228-59G>C	ENSP00000392293.2:n.228-59G>C
ENST00000527311.6:c.312-59G>C	ENSP00000436695.2:n.312-59G>C
ENST00000529905.5:c.537-59G>C	ENSP00000432053.1:n.537-59G>C
ENST00000530076.5:c.-121-59G>C	ENSP00000434007.1:n.-121-59G>C
ENST00000530704.5:c.*160-59G>C	ENSP00000431655.1:n.*160-59G>C
NM_000310.3:c.537-59G>C , LRG_690t1:c.537-59G>C	NP_000301.1:n.537-59G>C
NM_001142604.1:c.228-59G>C	NP_001136076.1:n.228-59G>C
XM_005271008.1:c.537-59G>C	XP_005271065.1:n.537-59G>C
NM_001363695.1:c.537-59G>C	NP_001350624.1:n.537-59G>C
NM_000310.4:c.537-59G>C MANE Select	NP_000301.1:n.537-59G>C
NM_001142604.2:c.228-59G>C	NP_001136076.1:n.228-59G>C
NM_001363695.2:c.537-59G>C	NP_001350624.1:n.537-59G>C