Canonical Allele Identifier: CA2598589433

Gene:

Linked Data

• dbSNP Id: rs2106642892
• gnomAD v3: 3-61428062-G-A
• gnomAD v4: 3-61428062-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428062G>A , CM000665.2:g.61428062G>A	GRCh38
NC_000003.11:g.61413736G>A , CM000665.1:g.61413736G>A	GRCh37
NC_000003.10:g.61388776G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940892.1:n.165-376C>T
XR_940893.1:n.164+452C>T
XR_001740725.1:n.202+452C>T
XR_940892.2:n.203-376C>T