gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799245G>A , CM000663.2:g.150799245G>A | GRCh38 |
| NC_000001.10:g.150771721G>A , CM000663.1:g.150771721G>A | GRCh37 |
| NC_000001.9:g.149038345G>A | NCBI36 |
| NG_011848.1:g.14092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.813C>T MANE Select | ENSP00000271651.3:p.Ser271= | |
| ENST00000443913.2:c.990C>T | ENSP00000405083.2:p.Ser330= | |
| ENST00000480670.2:n.3882C>T | ||
| ENST00000676680.1:c.*107C>T | ENSP00000503270.1:n.*107C>T | |
| ENST00000676716.1:c.690C>T | ENSP00000504737.1:p.Ser230= | |
| ENST00000676751.1:c.784+299C>T | ENSP00000502964.1:n.784+299C>T | |
| ENST00000676824.1:c.813C>T | ENSP00000504176.1:p.Ser271= | |
| ENST00000676966.1:c.813C>T | ENSP00000503723.1:p.Ser271= | |
| ENST00000676970.1:c.825C>T | ENSP00000503832.1:p.Ser275= | |
| ENST00000677330.1:n.2639C>T | ||
| ENST00000677611.1:n.665C>T | ||
| ENST00000677887.1:c.855C>T | ENSP00000503876.1:p.Ser285= | |
| ENST00000678275.1:c.*705C>T | ENSP00000504796.1:n.*705C>T | |
| ENST00000678337.1:c.849C>T | ENSP00000504759.1:p.Ser283= | |
| ENST00000678725.1:n.2060C>T | ||
| ENST00000679090.1:n.1668C>T | ||
| ENST00000679148.1:n.3775C>T | ||
| ENST00000679171.1:n.3444C>T | ||
| ENST00000679178.1:n.524C>T | ||
| ENST00000679260.1:c.594C>T | ENSP00000504534.1:p.Ser198= | |
| ENST00000271651.7:c.813C>T | ENSP00000271651.3:p.Ser271= | |
| NM_000396.3:c.813C>T | NP_000387.1:p.Ser271= | |
| NM_000396.4:c.813C>T MANE Select | NP_000387.1:p.Ser271= |