Canonical Allele Identifier: CA667950923
Gene:

Linked Data

dbSNP Id: rs918770582
gnomAD v3: 10-7047092-C-T
gnomAD v4: 10-7047092-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7047092C>T , CM000672.2:g.7047092C>T GRCh38
NC_000010.10:g.7089054C>T , CM000672.1:g.7089054C>T GRCh37
NC_000010.9:g.7129060C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930623.1:n.173-16775G>A
XR_930624.1:n.171-16775G>A
XR_930625.1:n.172-16775G>A
XR_930626.1:n.168-16775G>A
XR_930627.1:n.173-16775G>A
XR_001747351.1:n.364-16775G>A
XR_001747352.1:n.364-16775G>A
XR_001747353.1:n.188-34436G>A
XR_001747354.1:n.364-16775G>A
XR_930623.2:n.364-16775G>A
XR_930624.2:n.364-16775G>A
XR_930625.2:n.364-16775G>A
XR_930626.2:n.364-16775G>A
XR_930627.2:n.364-16775G>A