Canonical Allele Identifier: CA1010999812

Gene:

Linked Data

• dbSNP Id: rs1658970278
• gnomAD v3: 1-198500077-A-G
• gnomAD v4: 1-198500077-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.198500077A>G , CM000663.2:g.198500077A>G	GRCh38
NC_000001.10:g.198469207A>G , CM000663.1:g.198469207A>G	GRCh37
NC_000001.9:g.196735830A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922398.1:n.679+19474T>C
XR_922398.2:n.341+19474T>C