Canonical Allele Identifier: CA76316051

Gene:

Linked Data

• dbSNP Id: rs567415300
• gnomAD v2: 3-61413756-G-A
• gnomAD v3: 3-61428082-G-A
• gnomAD v4: 3-61428082-G-A
• MyVariant Identifiers: chr3:g.61413756G>A (hg19) ; chr3:g.61428082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428082G>A , CM000665.2:g.61428082G>A	GRCh38
NC_000003.11:g.61413756G>A , CM000665.1:g.61413756G>A	GRCh37
NC_000003.10:g.61388796G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940892.1:n.165-396C>T
XR_940893.1:n.164+432C>T
XR_001740725.1:n.202+432C>T
XR_940892.2:n.203-396C>T