Canonical Allele Identifier: CA1048602030

Gene:

Linked Data

• dbSNP Id: rs2041752938
• gnomAD v3: 3-61428080-A-G
• gnomAD v4: 3-61428080-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428080A>G , CM000665.2:g.61428080A>G	GRCh38
NC_000003.11:g.61413754A>G , CM000665.1:g.61413754A>G	GRCh37
NC_000003.10:g.61388794A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940892.1:n.165-394T>C
XR_940893.1:n.164+434T>C
XR_001740725.1:n.202+434T>C
XR_940892.2:n.203-394T>C