gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799607G>T , CM000663.2:g.150799607G>T | GRCh38 |
| NC_000001.10:g.150772083G>T , CM000663.1:g.150772083G>T | GRCh37 |
| NC_000001.9:g.149038707G>T | NCBI36 |
| NG_011848.1:g.13730C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.721C>A MANE Select | ENSP00000271651.3:p.Arg241= | |
| ENST00000443913.2:c.898C>A | ENSP00000405083.2:p.Arg300= | |
| ENST00000480670.2:n.3790C>A | ||
| ENST00000676680.1:c.*15C>A | ENSP00000503270.1:n.*15C>A | |
| ENST00000676716.1:c.598C>A | ENSP00000504737.1:p.Arg200= | |
| ENST00000676751.1:c.721C>A | ENSP00000502964.1:p.Arg241= | |
| ENST00000676824.1:c.721C>A | ENSP00000504176.1:p.Arg241= | |
| ENST00000676966.1:c.721C>A | ENSP00000503723.1:p.Arg241= | |
| ENST00000676970.1:c.721C>A | ENSP00000503832.1:p.Arg241= | |
| ENST00000677330.1:n.2547C>A | ||
| ENST00000677611.1:n.573C>A | ||
| ENST00000677887.1:c.763C>A | ENSP00000503876.1:p.Arg255= | |
| ENST00000678275.1:c.*613C>A | ENSP00000504796.1:n.*613C>A | |
| ENST00000678337.1:c.757C>A | ENSP00000504759.1:p.Arg253= | |
| ENST00000678725.1:n.1698C>A | ||
| ENST00000679090.1:n.1306C>A | ||
| ENST00000679148.1:n.3683C>A | ||
| ENST00000679171.1:n.3082C>A | ||
| ENST00000679178.1:n.432C>A | ||
| ENST00000679260.1:c.502C>A | ENSP00000504534.1:p.Arg168= | |
| ENST00000271651.7:c.721C>A | ENSP00000271651.3:p.Arg241= | |
| NM_000396.3:c.721C>A | NP_000387.1:p.Arg241= | |
| NM_000396.4:c.721C>A MANE Select | NP_000387.1:p.Arg241= |