Canonical Allele Identifier:
CA15353840
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54334904 (NFE)
Genomes Max Group AF
0.54334904 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99401288T>C , CM000666.2:g.99401288T>C | GRCh38 |
| NC_000004.11:g.100322445T>C , CM000666.1:g.100322445T>C | GRCh37 |
| NC_000004.10:g.100541468T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_427569.2:n.510+1545A>G | ||
| XR_939020.1:n.510+1545A>G | ||
| XR_939021.1:n.374+2803A>G | ||
| XR_001741777.1:n.756+1545A>G | ||
| XR_427569.3:n.1284+1545A>G | ||
| XR_939020.2:n.1284+1545A>G |