Canonical Allele Identifier: CA1318169434

Gene:

Linked Data

• dbSNP Id: rs1574259800
• gnomAD v3: 2-195006991-C-G
• gnomAD v4: 2-195006991-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006991C>G , CM000664.2:g.195006991C>G	GRCh38
NC_000002.11:g.195871715C>G , CM000664.1:g.195871715C>G	GRCh37
NC_000002.10:g.195579960C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52444G>C