Canonical Allele Identifier: CA1035506015

Gene:

Linked Data

• dbSNP Id: rs1678007908
• gnomAD v3: 2-118079705-C-A
• gnomAD v4: 2-118079705-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079705C>A , CM000664.2:g.118079705C>A	GRCh38
NC_000002.11:g.118837281C>A , CM000664.1:g.118837281C>A	GRCh37
NC_000002.10:g.118553751C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2173G>T	XP_011510607.1:n.697-2173G>T
XR_001739662.2:n.138+8546G>T