gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44813527C>T , CM000681.2:g.44813527C>T | GRCh38 |
| NC_000019.9:g.45316784C>T , CM000681.1:g.45316784C>T | GRCh37 |
| NC_000019.8:g.50008624C>T | NCBI36 |
| NG_007480.1:g.9447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270233.12:c.691C>T MANE Select | ENSP00000270233.5:p.Arg231Ter | |
| ENST00000591520.6:c.628C>T | ENSP00000467100.2:p.Arg210Ter | |
| ENST00000611077.5:c.691C>T | ENSP00000481153.1:p.Arg231Ter | |
| ENST00000270233.10:c.691C>T | ENSP00000270233.5:p.Arg231Ter | |
| ENST00000589651.5:c.691C>T | ENSP00000476710.1:p.Arg231Ter | |
| ENST00000590108.1:n.289C>T | ||
| ENST00000590196.1:c.90C>T | ||
| ENST00000591520.5:c.628C>T | ENSP00000467100.1:p.Arg210Ter | |
| ENST00000611077.4:c.691C>T | ENSP00000481153.1:p.Arg231Ter | |
| NM_001013257.2:c.691C>T | NP_001013275.1:p.Arg231Ter | |
| NM_005581.4:c.691C>T | NP_005572.2:p.Arg231Ter | |
| NM_005581.5:c.691C>T MANE Select | NP_005572.2:p.Arg231Ter |