Canonical Allele Identifier: CA974496561

Gene:

Linked Data

• dbSNP Id: rs1898217548
• gnomAD v3: 16-9249722-T-A
• gnomAD v4: 16-9249722-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9249722T>A , CM000678.2:g.9249722T>A	GRCh38
NC_000016.9:g.9343579T>A , CM000678.1:g.9343579T>A	GRCh37
NC_000016.8:g.9251080T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933054.1:n.70+64989T>A