Canonical Allele Identifier: CA202663813
Gene:

Linked Data

dbSNP Id: rs569160675
gnomAD v2: 10-7089106-T-G
gnomAD v3: 10-7047144-T-G
gnomAD v4: 10-7047144-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7047144T>G , CM000672.2:g.7047144T>G GRCh38
NC_000010.10:g.7089106T>G , CM000672.1:g.7089106T>G GRCh37
NC_000010.9:g.7129112T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930623.1:n.173-16827A>C
XR_930624.1:n.171-16827A>C
XR_930625.1:n.172-16827A>C
XR_930626.1:n.168-16827A>C
XR_930627.1:n.173-16827A>C
XR_001747351.1:n.364-16827A>C
XR_001747352.1:n.364-16827A>C
XR_001747353.1:n.188-34488A>C
XR_001747354.1:n.364-16827A>C
XR_930623.2:n.364-16827A>C
XR_930624.2:n.364-16827A>C
XR_930625.2:n.364-16827A>C
XR_930626.2:n.364-16827A>C
XR_930627.2:n.364-16827A>C