Revel Score:
ENST00000261304 (MANE Select)
0.925
ENST00000544807
0.925
ENST00000393569
0.925
ENST00000393568
0.925
ENST00000445021
0.925
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00120676 (AFR)
Genomes Max Group AF
0.00104454 (AFR)
Exomes Max Group AF
0.00121736 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87986582T>C , CM000676.2:g.87986582T>C | GRCh38 |
| NC_000014.8:g.88452926T>C , CM000676.1:g.88452926T>C | GRCh37 |
| NC_000014.7:g.87522679T>C | NCBI36 |
| NG_011853.2:g.11982A>G | |
| NG_011853.3:g.11982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.349A>G MANE Select | ENSP00000261304.2:p.Met117Val | |
| ENST00000261304.6:c.349A>G | ENSP00000261304.2:p.Met117Val | |
| ENST00000393568.8:c.280A>G | ENSP00000377198.4:p.Met94Val | |
| ENST00000393569.6:c.271A>G | ENSP00000377199.2:p.Met91Val | |
| ENST00000474294.6:n.339A>G | ||
| ENST00000544807.6:c.181A>G | ENSP00000437513.2:p.Met61Val | |
| ENST00000554372.5:c.*98A>G | ENSP00000451884.1:n.*98A>G | |
| ENST00000554916.5:n.228A>G | ||
| ENST00000556261.5:n.50A>G | ||
| ENST00000556879.5:c.409A>G | ENSP00000452208.1:n.409A>G | |
| ENST00000557316.5:c.349A>G | ENSP00000452314.1:p.Met117Val | |
| ENST00000622264.4:c.339A>G | ||
| NM_000153.3:c.349A>G | NP_000144.2:p.Met117Val | |
| NM_001201401.1:c.280A>G | NP_001188330.1:p.Met94Val | |
| NM_001201402.1:c.271A>G | NP_001188331.1:p.Met91Val | |
| XM_011536618.1:c.181A>G | XP_011534920.1:p.Met61Val | |
| XM_011536618.2:c.181A>G | XP_011534920.1:p.Met61Val | |
| NM_000153.4:c.349A>G MANE Select | NP_000144.2:p.Met117Val | |
| NM_001201401.2:c.280A>G | NP_001188330.1:p.Met94Val | |
| NM_001201402.2:c.271A>G | NP_001188331.1:p.Met91Val |