Canonical Allele Identifier: CA202663806
Gene:

Linked Data

dbSNP Id: rs1057292828
gnomAD v3: 10-7047077-G-A
gnomAD v4: 10-7047077-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7047077G>A , CM000672.2:g.7047077G>A GRCh38
NC_000010.10:g.7089039G>A , CM000672.1:g.7089039G>A GRCh37
NC_000010.9:g.7129045G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930623.1:n.173-16760C>T
XR_930624.1:n.171-16760C>T
XR_930625.1:n.172-16760C>T
XR_930626.1:n.168-16760C>T
XR_930627.1:n.173-16760C>T
XR_001747351.1:n.364-16760C>T
XR_001747352.1:n.364-16760C>T
XR_001747353.1:n.188-34421C>T
XR_001747354.1:n.364-16760C>T
XR_930623.2:n.364-16760C>T
XR_930624.2:n.364-16760C>T
XR_930625.2:n.364-16760C>T
XR_930626.2:n.364-16760C>T
XR_930627.2:n.364-16760C>T