Canonical Allele Identifier: CA1040809083

Gene:

Linked Data

• dbSNP Id: rs1688119632
• gnomAD v3: 2-195007037-A-G
• gnomAD v4: 2-195007037-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195007037A>G , CM000664.2:g.195007037A>G	GRCh38
NC_000002.11:g.195871761A>G , CM000664.1:g.195871761A>G	GRCh37
NC_000002.10:g.195580006A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52398T>C