Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664588A>C , CM000669.2:g.117664588A>C	GRCh38
NC_000007.13:g.117304642A>C , CM000669.1:g.117304642A>C	GRCh37
NC_000007.12:g.117091878A>C	NCBI36
NG_016465.4:g.203805A>C , LRG_663:g.203805A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-100A>C	ENSP00000497673.2:n.*173-100A>C
ENST00000647978.2:c.*3678-100A>C	ENSP00000497658.1:n.*3678-100A>C
ENST00000649781.2:c.3781-100A>C	ENSP00000497203.1:n.3781-100A>C
ENST00000685018.2:c.*177-100A>C	ENSP00000510194.2:n.*177-100A>C
ENST00000687278.2:c.*617-100A>C	ENSP00000509593.2:n.*617-100A>C
ENST00000699585.1:c.*173-100A>C	ENSP00000514456.1:n.*173-100A>C
ENST00000699598.1:c.3964-100A>C	ENSP00000514467.1:n.3964-100A>C
ENST00000699599.1:c.*177-100A>C	ENSP00000514468.1:n.*177-100A>C
ENST00000699600.1:c.*625-100A>C	ENSP00000514469.1:n.*625-100A>C
ENST00000699601.1:c.*2339-100A>C	ENSP00000514470.1:n.*2339-100A>C
ENST00000699602.1:c.3958-100A>C	ENSP00000514471.1:n.3958-100A>C
ENST00000699604.1:c.*3788-100A>C	ENSP00000514472.1:n.*3788-100A>C
ENST00000699605.1:c.3538-100A>C	ENSP00000514473.1:n.3538-100A>C
ENST00000699606.1:n.2132-100A>C
ENST00000685018.1:c.828-100A>C	ENSP00000510194.1:n.828-100A>C
ENST00000687278.1:c.1751-100A>C	ENSP00000509593.1:n.1751-100A>C
ENST00000689011.1:c.546-100A>C
ENST00000003084.11:c.3964-100A>C MANE Select	ENSP00000003084.6:n.3964-100A>C
ENST00000647720.1:c.1414-100A>C
ENST00000649781.1:c.3781-100A>C	ENSP00000497203.1:n.3781-100A>C
ENST00000003084.10:c.3964-100A>C	ENSP00000003084.6:n.3964-100A>C
ENST00000426809.5:c.3874-100A>C	ENSP00000389119.1:n.3874-100A>C
ENST00000600166.1:c.90-100A>C
NM_000492.3:c.3964-100A>C , LRG_663t1:c.3964-100A>C	NP_000483.3:n.3964-100A>C
XM_011515751.1:c.4054-100A>C	XP_011514053.1:n.4054-100A>C
XM_011515752.1:c.4054-100A>C	XP_011514054.1:n.4054-100A>C
XM_011515753.1:c.3721-100A>C	XP_011514055.1:n.3721-100A>C
XM_011515754.1:c.3721-100A>C	XP_011514056.1:n.3721-100A>C
NM_000492.4:c.3964-100A>C MANE Select	NP_000483.3:n.3964-100A>C