Canonical Allele Identifier: CA1048602017

Gene:

Linked Data

• dbSNP Id: rs2041752789
• gnomAD v3: 3-61428049-C-A
• gnomAD v4: 3-61428049-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428049C>A , CM000665.2:g.61428049C>A	GRCh38
NC_000003.11:g.61413723C>A , CM000665.1:g.61413723C>A	GRCh37
NC_000003.10:g.61388763C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940892.1:n.165-363G>T
XR_940893.1:n.164+465G>T
XR_001740725.1:n.202+465G>T
XR_940892.2:n.203-363G>T