Canonical Allele Identifier: CA2598589434

Gene:

Linked Data

• dbSNP Id: rs983726180
• gnomAD v3: 3-61428064-G-A
• gnomAD v4: 3-61428064-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428064G>A , CM000665.2:g.61428064G>A	GRCh38
NC_000003.11:g.61413738G>A , CM000665.1:g.61413738G>A	GRCh37
NC_000003.10:g.61388778G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940892.1:n.165-378C>T
XR_940893.1:n.164+450C>T
XR_001740725.1:n.202+450C>T
XR_940892.2:n.203-378C>T