Canonical Allele Identifier: CA974496552

Gene:

Linked Data

• dbSNP Id: rs1898216861
• gnomAD v3: 16-9249660-G-A
• gnomAD v4: 16-9249660-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249660G>A , CM000678.2:g.9249660G>A	GRCh38
NC_000016.9:g.9343517G>A , CM000678.1:g.9343517G>A	GRCh37
NC_000016.8:g.9251018G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64927G>A