Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.34068669C>T , CM000668.2:g.34068669C>T	GRCh38
NC_000006.11:g.34036446C>T , CM000668.1:g.34036446C>T	GRCh37
NC_000006.10:g.34144424C>T	NCBI36
NG_029677.3:g.91954G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000538487.7:c.737-6641G>A MANE Select	ENSP00000440556.1:n.737-6641G>A
ENST00000374177.7:c.530-6641G>A	ENSP00000363292.3:n.530-6641G>A
ENST00000374181.8:c.737-6641G>A	ENSP00000363296.4:n.737-6641G>A
ENST00000455714.6:c.317-6641G>A	ENSP00000398456.2:n.317-6641G>A
ENST00000535756.5:c.338-6641G>A	ENSP00000437925.1:n.338-6641G>A
ENST00000538487.6:c.737-6641G>A	ENSP00000440556.1:n.737-6641G>A
ENST00000544773.6:c.230-6641G>A	ENSP00000437730.1:n.230-6641G>A
ENST00000609222.5:c.338-6641G>A	ENSP00000477466.1:n.338-6641G>A
ENST00000609278.1:c.520-6641G>A	ENSP00000477016.1:n.520-6641G>A
ENST00000609443.1:c.-188-6641G>A	ENSP00000476561.1:n.-188-6641G>A
ENST00000609973.1:n.262-6641G>A
NM_000841.3:c.737-6641G>A	NP_000832.1:n.737-6641G>A
NM_001256809.2:c.530-6641G>A	NP_001243738.1:n.530-6641G>A
NM_001256811.2:c.737-6641G>A	NP_001243740.1:n.737-6641G>A
NM_001256812.2:c.230-6641G>A	NP_001243741.1:n.230-6641G>A
NM_001256813.2:c.338-6641G>A	NP_001243742.1:n.338-6641G>A
NM_001282847.1:c.-188-6641G>A	NP_001269776.1:n.-188-6641G>A
XM_017010790.2:c.737-6641G>A	XP_016866279.1:n.737-6641G>A
XM_017010791.2:c.737-6641G>A	XP_016866280.1:n.737-6641G>A
XM_017010792.1:c.497-6641G>A	XP_016866281.1:n.497-6641G>A
XM_017010793.2:c.338-6641G>A	XP_016866282.1:n.338-6641G>A
XR_001743363.1:n.1231-6641G>A
XR_001743364.2:n.847-6641G>A
NM_000841.4:c.737-6641G>A MANE Select	NP_000832.1:n.737-6641G>A
NM_001256813.3:c.338-6641G>A	NP_001243742.1:n.338-6641G>A
NM_001282847.2:c.-188-6641G>A	NP_001269776.1:n.-188-6641G>A
NM_001256809.3:c.530-6641G>A	NP_001243738.1:n.530-6641G>A
NM_001256811.3:c.737-6641G>A	NP_001243740.1:n.737-6641G>A

Linked Data

Genomic Alleles

Transcript Alleles