Canonical Allele Identifier: CA1320446170

Gene:

Linked Data

• dbSNP Id: rs1375514628
• gnomAD v3: 2-200033225-A-G
• gnomAD v4: 2-200033225-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033225A>G , CM000664.2:g.200033225A>G	GRCh38
NC_000002.11:g.200897948A>G , CM000664.1:g.200897948A>G	GRCh37
NC_000002.10:g.200606193A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22329T>C