Canonical Allele Identifier: CA1786774849

Gene:

Linked Data

• dbSNP Id: rs1806751517
• gnomAD v3: 8-57928344-T-G
• gnomAD v4: 8-57928344-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.57928344T>G , CM000670.2:g.57928344T>G	GRCh38
NC_000008.10:g.58840903T>G , CM000670.1:g.58840903T>G	GRCh37
NC_000008.9:g.59003457T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928921.1:n.347-29932T>G
XR_928921.2:n.349-29932T>G