Revel Score:
ENST00000217260 (MANE Select)
0.971
ENST00000400634
0.971
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002474 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000237 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.967264A>G , CM000682.2:g.967264A>G | GRCh38 |
| NC_000020.10:g.947907A>G , CM000682.1:g.947907A>G | GRCh37 |
| NC_000020.9:g.895907A>G | NCBI36 |
| NG_013043.1:g.40001T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.319T>C MANE Select | ENSP00000217260.4:p.Cys107Arg | |
| ENST00000217260.8:c.319T>C | ENSP00000217260.4:p.Cys107Arg | |
| ENST00000400634.2:c.319T>C | ENSP00000383475.2:p.Cys107Arg | |
| NM_001029871.3:c.319T>C | NP_001025042.2:p.Cys107Arg | |
| NM_001040007.2:c.319T>C | NP_001035096.1:p.Cys107Arg | |
| XM_011529232.1:c.367T>C | XP_011527534.1:p.Cys123Arg | |
| XM_011529233.1:c.367T>C | XP_011527535.1:p.Cys123Arg | |
| XR_937068.1:n.439T>C | ||
| XR_937069.1:n.434T>C | ||
| XM_017027839.1:c.319T>C | XP_016883328.1:p.Cys107Arg | |
| NM_001029871.4:c.319T>C MANE Select | NP_001025042.2:p.Cys107Arg | |
| NM_001040007.3:c.319T>C | NP_001035096.1:p.Cys107Arg |