Canonical Allele Identifier: CA497763147
Gene:

Linked Data

dbSNP Id: rs1981897490
gnomAD v3: 17-8137821-G-A
gnomAD v4: 17-8137821-G-A
MyVariant Identifiers: chr17:g.8041139G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137821G>A , CM000679.2:g.8137821G>A GRCh38
NC_000017.10:g.8041139G>A , CM000679.1:g.8041139G>A GRCh37
NC_000017.9:g.7981864G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1028G>A
XR_934203.1:n.70-1656G>A
XR_934202.2:n.414-1028G>A