Canonical Allele Identifier:
CA155828844
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00090857 (EAS)
Genomes Max Group AF
0.00090857 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283710C>A , CM000669.2:g.24283710C>A | GRCh38 |
| NC_000007.13:g.24323329C>A , CM000669.1:g.24323329C>A | GRCh37 |
| NC_000007.12:g.24289854C>A | NCBI36 |
| NG_016148.1:g.4523C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012910.1:c.42-28011G>T | XP_016868399.1:n.42-28011G>T | |
| XM_017012911.1:c.42-28011G>T | XP_016868400.1:n.42-28011G>T | |
| XR_001745121.1:n.473+35647G>T | ||
| XR_001745122.1:n.345-86681G>T | ||
| XR_001745123.1:n.473+35647G>T | ||
| XR_001745124.1:n.473+35647G>T | ||
| XR_001745125.1:n.473+35647G>T | ||
| XR_001745126.1:n.473+35647G>T | ||
| XR_001745127.1:n.345-28011G>T | ||
| XR_001745129.1:n.473+35647G>T | ||
| XR_001745130.1:n.473+35647G>T | ||
| XR_001745131.1:n.473+35647G>T | ||
| XR_001745132.1:n.473+35647G>T |