Canonical Allele Identifier: CA624727101
Gene:

Linked Data

dbSNP Id: rs1362501842
gnomAD v2: 17-8041177-G-A
gnomAD v3: 17-8137859-G-A
gnomAD v4: 17-8137859-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137859G>A , CM000679.2:g.8137859G>A GRCh38
NC_000017.10:g.8041177G>A , CM000679.1:g.8041177G>A GRCh37
NC_000017.9:g.7981902G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-990G>A
XR_934203.1:n.70-1618G>A
XR_934202.2:n.414-990G>A