Revel Score:
ENST00000329198 (MANE Select)
0.787
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000559 (AMR)
Exomes Max Group AF
0.00000753 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232898G>A , CM000667.2:g.173232898G>A | GRCh38 |
| NC_000005.9:g.172659901G>A , CM000667.1:g.172659901G>A | GRCh37 |
| NC_000005.8:g.172592507G>A | NCBI36 |
| NG_013340.1:g.7415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.646C>T MANE Select | ENSP00000327758.4:p.Arg216Cys | |
| ENST00000329198.4:c.646C>T | ENSP00000327758.4:p.Arg216Cys | |
| ENST00000424406.2:c.*599C>T | ENSP00000395378.2:n.*599C>T | |
| ENST00000521848.1:c.*445C>T | ENSP00000427906.1:n.*445C>T | |
| NM_001166175.1:c.*599C>T | NP_001159647.1:n.*599C>T | |
| NM_001166176.1:c.*445C>T | NP_001159648.1:n.*445C>T | |
| NM_004387.3:c.646C>T | NP_004378.1:p.Arg216Cys | |
| NM_004387.4:c.646C>T MANE Select | NP_004378.1:p.Arg216Cys | |
| NM_001166175.2:c.*599C>T | NP_001159647.1:n.*599C>T | |
| NM_001166176.2:c.*445C>T | NP_001159648.1:n.*445C>T |