Canonical Allele Identifier: CA915460390

Gene:

Linked Data

• dbSNP Id: rs1562614265
• gnomAD v2: 7-46072607-A-G
• gnomAD v3: 7-46033009-A-G
• gnomAD v4: 7-46033009-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.46033009A>G , CM000669.2:g.46033009A>G	GRCh38
NC_000007.13:g.46072607A>G , CM000669.1:g.46072607A>G	GRCh37
NC_000007.12:g.46039132A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745203.1:n.1270-3609A>G