gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101796744G>A , CM000674.2:g.101796744G>A | GRCh38 |
| NC_000012.11:g.102190522G>A , CM000674.1:g.102190522G>A | GRCh37 |
| NC_000012.10:g.100714653G>A | NCBI36 |
| NG_021243.1:g.39124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.136C>T MANE Select | ENSP00000299314.7:p.Arg46Ter | |
| ENST00000647144.1:n.256C>T | ||
| ENST00000299314.11:c.136C>T | ENSP00000299314.7:p.Arg46Ter | |
| ENST00000392919.4:c.136C>T | ENSP00000376651.4:p.Arg46Ter | |
| ENST00000549165.1:c.136C>T | ENSP00000450413.1:p.Arg46Ter | |
| ENST00000549940.5:c.136C>T | ENSP00000449150.1:p.Arg46Ter | |
| NM_024312.4:c.136C>T | NP_077288.2:p.Arg46Ter | |
| XM_006719593.2:c.136C>T | XP_006719656.1:p.Arg46Ter | |
| XM_011538731.1:c.55C>T | XP_011537033.1:p.Arg19Ter | |
| XM_006719593.3:c.136C>T | XP_006719656.1:p.Arg46Ter | |
| XM_011538731.2:c.55C>T | XP_011537033.1:p.Arg19Ter | |
| XM_017019961.1:c.-81C>T | XP_016875450.1:n.-81C>T | |
| XM_017019962.2:c.-1215C>T | XP_016875451.1:n.-1215C>T | |
| NM_024312.5:c.136C>T MANE Select | NP_077288.2:p.Arg46Ter |