Canonical Allele Identifier: CA1010999817

Gene:

Linked Data

• dbSNP Id: rs1658970833
• gnomAD v3: 1-198500119-G-C
• gnomAD v4: 1-198500119-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.198500119G>C , CM000663.2:g.198500119G>C	GRCh38
NC_000001.10:g.198469249G>C , CM000663.1:g.198469249G>C	GRCh37
NC_000001.9:g.196735872G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922398.1:n.679+19432C>G
XR_922398.2:n.341+19432C>G