Revel Score:
ENST00000204679 (MANE Select)
0.339
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00126826 (MID)
Genomes Max Group AF
0.00074743 (AFR)
Exomes Max Group AF
0.00133291 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1363030C>T , CM000678.2:g.1363030C>T | GRCh38 |
| NC_000016.9:g.1413031C>T , CM000678.1:g.1413031C>T | GRCh37 |
| NC_000016.8:g.1353032C>T | NCBI36 |
| NG_016985.1:g.16132C>T | |
| NG_033129.1:g.56675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.956C>T | ||
| ENST00000529110.2:c.941C>T | ENSP00000435349.2:p.Thr314Met | |
| ENST00000529957.6:n.915C>T | ||
| ENST00000683366.1:c.*589C>T | ENSP00000507283.1:n.*589C>T | |
| ENST00000683887.1:c.905C>T | ENSP00000506886.1:p.Thr302Met | |
| ENST00000684100.1:n.851C>T | ||
| ENST00000684126.1:n.991C>T | ||
| ENST00000684688.1:n.1482C>T | ||
| ENST00000204679.9:c.857C>T MANE Select | ENSP00000204679.4:p.Thr286Met | |
| ENST00000204679.8:c.857C>T | ENSP00000204679.4:p.Thr286Met | |
| ENST00000527076.1:n.2080C>T | ||
| ENST00000527168.5:n.1024C>T | ||
| NM_032520.4:c.857C>T | NP_115909.1:p.Thr286Met | |
| XM_017023782.1:c.905C>T | XP_016879271.1:p.Thr302Met | |
| XM_017023783.1:c.497C>T | XP_016879272.1:p.Thr166Met | |
| NM_032520.5:c.857C>T MANE Select | NP_115909.1:p.Thr286Met |