Revel Score:
ENST00000355112 (MANE Select)
0.112
gnomAD v4:
Joint Max Group AF
0.00000125 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90749809A>C , CM000677.2:g.90749809A>C | GRCh38 |
| NC_000015.9:g.91293039A>C , CM000677.1:g.91293039A>C | GRCh37 |
| NC_000015.8:g.89094043A>C | NCBI36 |
| NG_007272.1:g.37438A>C , LRG_20:g.37438A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.541A>C MANE Select | ENSP00000347232.3:p.Ser181Arg | |
| ENST00000648453.1:c.541A>C | ENSP00000497646.1:p.Ser181Arg | |
| ENST00000680772.1:c.541A>C | ENSP00000506117.1:p.Ser181Arg | |
| ENST00000681142.1:c.541A>C | ENSP00000506682.1:p.Ser181Arg | |
| ENST00000355112.7:c.541A>C | ENSP00000347232.3:p.Ser181Arg | |
| ENST00000559282.1:n.715A>C | ||
| ENST00000559724.5:c.541A>C | ENSP00000453359.1:p.Ser181Arg | |
| ENST00000560509.5:c.541A>C | ENSP00000454158.1:p.Ser181Arg | |
| NM_000057.3:c.541A>C | NP_000048.1:p.Ser181Arg | |
| NM_001287246.1:c.541A>C | NP_001274175.1:p.Ser181Arg | |
| NM_001287247.1:c.541A>C | NP_001274176.1:p.Ser181Arg | |
| NM_001287248.1:c.-751A>C | NP_001274177.1:n.-751A>C | |
| XM_011521882.1:c.541A>C | XP_011520184.1:p.Ser181Arg | |
| XM_011521882.3:c.541A>C | XP_011520184.1:p.Ser181Arg | |
| NM_000057.4:c.541A>C MANE Select | NP_000048.1:p.Ser181Arg | |
| NM_001287246.2:c.541A>C | NP_001274175.1:p.Ser181Arg | |
| NM_001287247.2:c.541A>C | NP_001274176.1:p.Ser181Arg | |
| NM_001287248.2:c.-751A>C | NP_001274177.1:n.-751A>C |