Canonical Allele Identifier:
CA13339194
Gene:
Linked Data
dbSNP Id:
rs10905099
gnomAD v2:
10-7089016-A-G
gnomAD v3:
10-7047054-A-G
gnomAD v4:
10-7047054-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.7047054A>G , CM000672.2:g.7047054A>G | GRCh38 |
| NC_000010.10:g.7089016A>G , CM000672.1:g.7089016A>G | GRCh37 |
| NC_000010.9:g.7129022A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_930623.1:n.173-16737T>C | ||
| XR_930624.1:n.171-16737T>C | ||
| XR_930625.1:n.172-16737T>C | ||
| XR_930626.1:n.168-16737T>C | ||
| XR_930627.1:n.173-16737T>C | ||
| XR_001747351.1:n.364-16737T>C | ||
| XR_001747352.1:n.364-16737T>C | ||
| XR_001747353.1:n.188-34398T>C | ||
| XR_001747354.1:n.364-16737T>C | ||
| XR_930623.2:n.364-16737T>C | ||
| XR_930624.2:n.364-16737T>C | ||
| XR_930625.2:n.364-16737T>C | ||
| XR_930626.2:n.364-16737T>C | ||
| XR_930627.2:n.364-16737T>C |