Canonical Allele Identifier: CA202663808
Gene:

Linked Data

dbSNP Id: rs1055657379
gnomAD v2: 10-7089066-T-C
gnomAD v3: 10-7047104-T-C
gnomAD v4: 10-7047104-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7047104T>C , CM000672.2:g.7047104T>C GRCh38
NC_000010.10:g.7089066T>C , CM000672.1:g.7089066T>C GRCh37
NC_000010.9:g.7129072T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930623.1:n.173-16787A>G
XR_930624.1:n.171-16787A>G
XR_930625.1:n.172-16787A>G
XR_930626.1:n.168-16787A>G
XR_930627.1:n.173-16787A>G
XR_001747351.1:n.364-16787A>G
XR_001747352.1:n.364-16787A>G
XR_001747353.1:n.188-34448A>G
XR_001747354.1:n.364-16787A>G
XR_930623.2:n.364-16787A>G
XR_930624.2:n.364-16787A>G
XR_930625.2:n.364-16787A>G
XR_930626.2:n.364-16787A>G
XR_930627.2:n.364-16787A>G