gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000953 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352404C>T , CM000679.2:g.44352404C>T | GRCh38 |
| NC_000017.10:g.42429772C>T , CM000679.1:g.42429772C>T | GRCh37 |
| NC_000017.9:g.39785298C>T | NCBI36 |
| NG_007886.1:g.12282C>T , LRG_661:g.12282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1477C>T MANE Select | ENSP00000053867.2:p.Arg493Ter | |
| ENST00000639447.1:c.1137-125C>T | ENSP00000492014.1:n.1137-125C>T | |
| ENST00000053867.7:c.1477C>T | ENSP00000053867.2:p.Arg493Ter | |
| ENST00000586242.1:c.111C>T | ||
| ENST00000586443.1:c.918C>T | ||
| ENST00000589265.5:c.1006C>T | ENSP00000467616.1:p.Arg336Ter | |
| NM_002087.3:c.1477C>T | NP_002078.1:p.Arg493Ter | |
| XM_005257253.1:c.1477C>T | XP_005257310.1:p.Arg493Ter | |
| XM_024450730.1:c.1477C>T | XP_024306498.1:p.Arg493Ter | |
| NM_002087.4:c.1477C>T MANE Select | NP_002078.1:p.Arg493Ter |