gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160136307C>T , CM000663.2:g.160136307C>T | GRCh38 |
| NC_000001.10:g.160106097C>T , CM000663.1:g.160106097C>T | GRCh37 |
| NC_000001.9:g.158372721C>T | NCBI36 |
| NG_008014.1:g.25550C>T , LRG_6:g.25550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.2500C>T MANE Select | ENSP00000354490.3:p.Arg834Ter | |
| ENST00000361216.7:c.2500C>T | ENSP00000354490.3:p.Arg834Ter | |
| ENST00000392233.7:c.2500C>T | ENSP00000376066.3:p.Arg834Ter | |
| ENST00000447527.1:c.1632C>T | ||
| ENST00000472488.5:n.2603C>T | ||
| NM_000702.3:c.2500C>T | NP_000693.1:p.Arg834Ter | |
| NM_000702.4:c.2500C>T MANE Select | NP_000693.1:p.Arg834Ter |