Canonical Allele Identifier: CA1040809080

Gene:

Linked Data

• dbSNP Id: rs1688119432
• gnomAD v3: 2-195006997-G-C
• gnomAD v4: 2-195006997-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006997G>C , CM000664.2:g.195006997G>C	GRCh38
NC_000002.11:g.195871721G>C , CM000664.1:g.195871721G>C	GRCh37
NC_000002.10:g.195579966G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52438C>G