gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34439724 (EAS)
Genomes Max Group AF
0.31512232 (EAS)
Exomes Max Group AF
0.3488448 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128186851C>T , CM000667.2:g.128186851C>T | GRCh38 |
| NC_000005.9:g.127522543C>T , CM000667.1:g.127522543C>T | GRCh37 |
| NC_000005.8:g.127550442C>T | NCBI36 |
| NG_042286.1:g.108061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262461.7:c.*220C>T MANE Select | ENSP00000262461.2:n.*220C>T | |
| ENST00000262461.6:c.*220C>T | ENSP00000262461.2:n.*220C>T | |
| ENST00000343225.4:c.*220C>T | ENSP00000340878.4:n.*220C>T | |
| ENST00000509205.5:c.*472C>T | ENSP00000427109.1:n.*472C>T | |
| NM_001046.2:c.*220C>T | NP_001037.1:n.*220C>T | |
| NM_001256461.1:c.*220C>T | NP_001243390.1:n.*220C>T | |
| NR_046207.1:n.4089C>T | ||
| XM_017009771.1:c.*220C>T | XP_016865260.1:n.*220C>T | |
| XR_001742214.1:n.4083C>T | ||
| NM_001046.3:c.*220C>T MANE Select | NP_001037.1:n.*220C>T | |
| NM_001256461.2:c.*220C>T | NP_001243390.1:n.*220C>T | |
| NR_046207.2:n.4114C>T |