Canonical Allele Identifier: CA974496440

Gene:

Linked Data

• dbSNP Id: rs1898213997
• gnomAD v3: 16-9249389-G-A
• gnomAD v4: 16-9249389-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249389G>A , CM000678.2:g.9249389G>A	GRCh38
NC_000016.9:g.9343246G>A , CM000678.1:g.9343246G>A	GRCh37
NC_000016.8:g.9250747G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64656G>A