gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003478 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
0.00000995 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18157209C>T , CM000679.2:g.18157209C>T | GRCh38 |
| NC_000017.10:g.18060523C>T , CM000679.1:g.18060523C>T | GRCh37 |
| NC_000017.9:g.18001248C>T | NCBI36 |
| NG_011634.1:g.53504C>T | |
| NG_011634.2:g.53504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.614C>T | ||
| ENST00000643693.1:n.587C>T | ||
| ENST00000644795.1:c.559C>T | ENSP00000495720.1:p.Arg187Ter | |
| ENST00000646782.1:n.1010C>T | ||
| ENST00000647165.2:c.8767C>T MANE Select | ENSP00000495481.1:p.Arg2923Ter | |
| ENST00000651214.1:n.913C>T | ||
| ENST00000205890.9:c.8767C>T | ENSP00000205890.5:p.Arg2923Ter | |
| ENST00000418233.7:c.559C>T | ENSP00000408800.3:p.Arg187Ter | |
| ENST00000445289.6:n.138-513C>T | ||
| ENST00000536811.5:n.680C>T | ||
| ENST00000615845.4:c.8767C>T | ENSP00000481642.1:p.Arg2923Ter | |
| NM_016239.3:c.8767C>T | NP_057323.3:p.Arg2923Ter | |
| XM_011523921.1:c.8761C>T | XP_011522223.1:p.Arg2921Ter | |
| XM_017024714.2:c.8707C>T | XP_016880203.1:p.Arg2903Ter | |
| XM_017024715.2:c.8770C>T | XP_016880204.1:p.Arg2924Ter | |
| NM_016239.4:c.8767C>T MANE Select | NP_057323.3:p.Arg2923Ter |