Canonical Allele Identifier: CA667950924
Gene:

Linked Data

dbSNP Id: rs1343917460
gnomAD v3: 10-7047099-C-A
gnomAD v4: 10-7047099-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7047099C>A , CM000672.2:g.7047099C>A GRCh38
NC_000010.10:g.7089061C>A , CM000672.1:g.7089061C>A GRCh37
NC_000010.9:g.7129067C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930623.1:n.173-16782G>T
XR_930624.1:n.171-16782G>T
XR_930625.1:n.172-16782G>T
XR_930626.1:n.168-16782G>T
XR_930627.1:n.173-16782G>T
XR_001747351.1:n.364-16782G>T
XR_001747352.1:n.364-16782G>T
XR_001747353.1:n.188-34443G>T
XR_001747354.1:n.364-16782G>T
XR_930623.2:n.364-16782G>T
XR_930624.2:n.364-16782G>T
XR_930625.2:n.364-16782G>T
XR_930626.2:n.364-16782G>T
XR_930627.2:n.364-16782G>T