Canonical Allele Identifier: CA1320446275

Gene:

Linked Data

• dbSNP Id: rs1011039852
• gnomAD v3: 2-200033411-C-A
• gnomAD v4: 2-200033411-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033411C>A , CM000664.2:g.200033411C>A	GRCh38
NC_000002.11:g.200898134C>A , CM000664.1:g.200898134C>A	GRCh37
NC_000002.10:g.200606379C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22515G>T