Revel Score:
ENST00000381178
0.943
ENST00000381175
0.943
ENST00000352909 (MANE Select)
0.943
ENST00000333684
0.943
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007561 (AMR)
Genomes Max Group AF
0.00002259 (AMR)
Exomes Max Group AF
0.00007011 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2164339G>A , CM000673.2:g.2164339G>A | GRCh38 |
| NC_000011.9:g.2185569G>A , CM000673.1:g.2185569G>A | GRCh37 |
| NC_000011.8:g.2142145G>A | NCBI36 |
| NG_007114.1:g.1856C>T | |
| NG_008128.1:g.12467C>T | |
| NG_050578.1:g.1871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1388C>T MANE Select | ENSP00000325951.4:p.Thr463Met | |
| ENST00000333684.9:c.1106C>T | ENSP00000328814.6:p.Thr369Met | |
| ENST00000352909.7:c.1388C>T | ENSP00000325951.3:p.Thr463Met | |
| ENST00000381175.5:c.1469C>T | ENSP00000370567.1:p.Thr490Met | |
| ENST00000381178.5:c.1481C>T | ENSP00000370571.1:p.Thr494Met | |
| NM_000360.3:c.1388C>T | NP_000351.2:p.Thr463Met | |
| NM_199292.2:c.1481C>T | NP_954986.2:p.Thr494Met | |
| NM_199293.2:c.1469C>T | NP_954987.2:p.Thr490Met | |
| XM_011520335.1:c.1400C>T | XP_011518637.1:p.Thr467Met | |
| XM_011520335.2:c.1400C>T | XP_011518637.1:p.Thr467Met | |
| NM_000360.4:c.1388C>T MANE Select | NP_000351.2:p.Thr463Met | |
| NM_199292.3:c.1481C>T | NP_954986.2:p.Thr494Met | |
| NM_199293.3:c.1469C>T | NP_954987.2:p.Thr490Met |