gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40176672C>T , CM000677.2:g.40176672C>T | GRCh38 |
| NC_000015.9:g.40468873C>T , CM000677.1:g.40468873C>T | GRCh37 |
| NC_000015.8:g.38256165C>T | NCBI36 |
| NG_016338.1:g.20664C>T , LRG_489:g.20664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.580C>T MANE Select | ENSP00000287598.7:p.Arg194Ter | |
| ENST00000287598.10:c.580C>T | ENSP00000287598.6:p.Arg194Ter | |
| ENST00000412359.7:c.622C>T | ENSP00000398470.3:p.Arg208Ter | |
| NM_001211.5:c.580C>T , LRG_489t1:c.580C>T | NP_001202.4:p.Arg194Ter | |
| XR_001751506.1:n.392-2188G>A | ||
| NM_001211.6:c.580C>T MANE Select | NP_001202.5:p.Arg194Ter |