Canonical Allele Identifier: CA981245690
Gene:

Linked Data

gnomAD v3: 17-8137279-T-A
gnomAD v4: 17-8137279-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137279T>A , CM000679.2:g.8137279T>A GRCh38
NC_000017.10:g.8040597T>A , CM000679.1:g.8040597T>A GRCh37
NC_000017.9:g.7981322T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1570T>A
XR_934203.1:n.70-2198T>A
XR_934202.2:n.414-1570T>A