Canonical Allele Identifier:
CA155828845
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00050182 (AMR)
Genomes Max Group AF
0.00050182 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283712G>A , CM000669.2:g.24283712G>A | GRCh38 |
| NC_000007.13:g.24323331G>A , CM000669.1:g.24323331G>A | GRCh37 |
| NC_000007.12:g.24289856G>A | NCBI36 |
| NG_016148.1:g.4525G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012910.1:c.42-28013C>T | XP_016868399.1:n.42-28013C>T | |
| XM_017012911.1:c.42-28013C>T | XP_016868400.1:n.42-28013C>T | |
| XR_001745121.1:n.473+35645C>T | ||
| XR_001745122.1:n.345-86683C>T | ||
| XR_001745123.1:n.473+35645C>T | ||
| XR_001745124.1:n.473+35645C>T | ||
| XR_001745125.1:n.473+35645C>T | ||
| XR_001745126.1:n.473+35645C>T | ||
| XR_001745127.1:n.345-28013C>T | ||
| XR_001745129.1:n.473+35645C>T | ||
| XR_001745130.1:n.473+35645C>T | ||
| XR_001745131.1:n.473+35645C>T | ||
| XR_001745132.1:n.473+35645C>T |