Canonical Allele Identifier: CA543528918

Gene:

Linked Data

• dbSNP Id: rs1381543513
• gnomAD v2: 3-61413742-T-C
• gnomAD v3: 3-61428068-T-C
• gnomAD v4: 3-61428068-T-C
• MyVariant Identifiers: chr3:g.61413742T>C (hg19) ; chr3:g.61428068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428068T>C , CM000665.2:g.61428068T>C	GRCh38
NC_000003.11:g.61413742T>C , CM000665.1:g.61413742T>C	GRCh37
NC_000003.10:g.61388782T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940892.1:n.165-382A>G
XR_940893.1:n.164+446A>G
XR_001740725.1:n.202+446A>G
XR_940892.2:n.203-382A>G