Canonical Allele Identifier: CA2607136821

Gene:

Linked Data

• dbSNP Id: rs10172965
• gnomAD v3: 2-195007095-C-A
• gnomAD v4: 2-195007095-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195007095C>A , CM000664.2:g.195007095C>A	GRCh38
NC_000002.11:g.195871819C>A , CM000664.1:g.195871819C>A	GRCh37
NC_000002.10:g.195580064C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52340G>T