Canonical Allele Identifier: CA1048602013

Gene:

Linked Data

• dbSNP Id: rs2041752760
• gnomAD v3: 3-61428041-A-G
• gnomAD v4: 3-61428041-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428041A>G , CM000665.2:g.61428041A>G	GRCh38
NC_000003.11:g.61413715A>G , CM000665.1:g.61413715A>G	GRCh37
NC_000003.10:g.61388755A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940892.1:n.165-355T>C
XR_940893.1:n.164+473T>C
XR_001740725.1:n.202+473T>C
XR_940892.2:n.203-355T>C