Revel Score:
ENST00000366898 (MANE Select)
0.905
ENST00000366897
0.905
ENST00000366896
0.905
ENST00000366894
0.905
ENST00000338468
0.905
ENST00000392134
0.905
ENST00000366892
0.905
ENST00000366895
0.905
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161785793C>G , CM000668.2:g.161785793C>G | GRCh38 |
| NC_000006.11:g.162206825C>G , CM000668.1:g.162206825C>G | GRCh37 |
| NC_000006.10:g.162126815C>G | NCBI36 |
| NG_008289.1:g.947010G>C | |
| NG_008289.2:g.947010G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.728G>C | ENSP00000343589.4:n.728G>C | |
| ENST00000366894.6:c.609G>C | ENSP00000355860.2:n.609G>C | |
| ENST00000366898.6:c.850G>C MANE Select | ENSP00000355865.1:p.Gly284Arg | |
| ENST00000673871.1:c.845G>C | ||
| ENST00000674006.1:n.235G>C | ||
| ENST00000674436.1:n.486G>C | ||
| ENST00000674501.1:n.957G>C | ||
| ENST00000338468.7:c.277G>C | ENSP00000343589.3:p.Gly93Arg | |
| ENST00000366892.5:c.850G>C | ENSP00000355858.1:p.Gly284Arg | |
| ENST00000366894.5:c.277G>C | ENSP00000355860.1:p.Gly93Arg | |
| ENST00000366896.5:c.403G>C | ENSP00000355862.1:p.Gly135Arg | |
| ENST00000366897.5:c.766G>C | ENSP00000355863.1:p.Gly256Arg | |
| ENST00000366898.5:c.850G>C | ENSP00000355865.1:p.Gly284Arg | |
| ENST00000479615.5:c.613G>C | ENSP00000434414.1:p.Gly205Arg | |
| NM_004562.2:c.850G>C | NP_004553.2:p.Gly284Arg | |
| NM_013987.2:c.766G>C | NP_054642.2:p.Gly256Arg | |
| NM_013988.2:c.403G>C | NP_054643.2:p.Gly135Arg | |
| XM_011535863.1:c.847G>C | XP_011534165.1:p.Gly283Arg | |
| XM_011535864.1:c.850G>C | XP_011534166.1:p.Gly284Arg | |
| XM_011535865.1:c.850G>C | XP_011534167.1:p.Gly284Arg | |
| XM_017010908.1:c.964G>C | XP_016866397.1:p.Gly322Arg | |
| XM_017010909.2:c.610G>C | XP_016866398.1:p.Gly204Arg | |
| XM_024446449.1:c.613G>C | XP_024302217.1:p.Gly205Arg | |
| XR_001743443.2:n.956G>C | ||
| NM_004562.3:c.850G>C MANE Select | NP_004553.2:p.Gly284Arg | |
| NM_013987.3:c.766G>C | NP_054642.2:p.Gly256Arg | |
| NM_013988.3:c.403G>C | NP_054643.2:p.Gly135Arg |