Revel Score:
ENST00000300527 (MANE Select)
0.761
ENST00000357838
0.761
ENST00000310645
0.761
ENST00000409416
0.761
ENST00000397763 (MANE Plus Clinical)
0.761
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46126144T>C , CM000683.2:g.46126144T>C | GRCh38 |
| NC_000021.8:g.47546058T>C , CM000683.1:g.47546058T>C | GRCh37 |
| NC_000021.7:g.46370486T>C | NCBI36 |
| NG_008675.1:g.33026T>C , LRG_476:g.33026T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.2329T>C MANE Plus Clinical | ENSP00000380870.1:p.Cys777Arg | |
| ENST00000300527.9:c.2329T>C MANE Select | ENSP00000300527.4:p.Cys777Arg | |
| ENST00000409416.6:c.2329T>C | ENSP00000387115.1:p.Cys777Arg | |
| ENST00000300527.8:c.2329T>C | ENSP00000300527.4:p.Cys777Arg | |
| ENST00000310645.9:c.2329T>C | ENSP00000312529.5:p.Cys777Arg | |
| ENST00000397763.5:c.2329T>C | ENSP00000380870.1:p.Cys777Arg | |
| ENST00000409416.5:c.2329T>C | ENSP00000387115.1:p.Cys777Arg | |
| NM_001849.3:c.2329T>C , LRG_476t1:c.2329T>C | NP_001840.3:p.Cys777Arg | |
| NM_058174.2:c.2329T>C | NP_478054.2:p.Cys777Arg | |
| NM_058175.2:c.2329T>C | NP_478055.2:p.Cys777Arg | |
| XM_011529451.1:c.2329T>C | XP_011527753.1:p.Cys777Arg | |
| XM_011529452.1:c.2329T>C | XP_011527754.1:p.Cys777Arg | |
| XR_937438.1:n.2406T>C | ||
| XR_937439.1:n.2406T>C | ||
| XR_937438.2:n.2413T>C | ||
| XR_937439.2:n.2413T>C | ||
| NM_001849.4:c.2329T>C MANE Select | NP_001840.3:p.Cys777Arg | |
| NM_058174.3:c.2329T>C MANE Plus Clinical | NP_478054.2:p.Cys777Arg | |
| NM_058175.3:c.2329T>C | NP_478055.2:p.Cys777Arg |