gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421610G>A , CM000677.2:g.48421610G>A | GRCh38 |
| NC_000015.9:g.48713807G>A , CM000677.1:g.48713807G>A | GRCh37 |
| NC_000015.8:g.46501099G>A | NCBI36 |
| NG_008805.2:g.229179C>T , LRG_778:g.229179C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*455C>T | ENSP00000453958.2:n.*455C>T | |
| ENST00000674301.2:c.*1160C>T | ENSP00000501333.2:n.*1160C>T | |
| ENST00000682170.1:n.1828C>T | ||
| ENST00000682767.1:n.944C>T | ||
| ENST00000316623.10:c.7647C>T MANE Select | ENSP00000325527.5:p.Thr2549= | |
| ENST00000674301.1:c.2813C>T | ENSP00000501333.1:n.2813C>T | |
| ENST00000316623.9:c.7647C>T | ENSP00000325527.5:p.Thr2549= | |
| ENST00000559133.5:c.3016C>T | ||
| NM_000138.4:c.7647C>T , LRG_778t1:c.7647C>T | NP_000129.3:p.Thr2549= | |
| NM_000138.5:c.7647C>T MANE Select | NP_000129.3:p.Thr2549= |