Revel Score:
ENST00000261643 (MANE Select)
0.076
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.004265 (EAS)
Genomes Max Group AF
0.00498831 (EAS)
Exomes Max Group AF
0.00399294 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076859C>T , CM000679.2:g.14076859C>T | GRCh38 |
| NC_000017.10:g.13980176C>T , CM000679.1:g.13980176C>T | GRCh37 |
| NC_000017.9:g.13920901C>T | NCBI36 |
| NG_008034.1:g.12458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.302C>T MANE Select | ENSP00000261643.3:p.Pro101Leu | |
| ENST00000664217.1:c.302C>T | ENSP00000499396.1:p.Pro101Leu | |
| ENST00000670279.1:c.302C>T | ENSP00000499450.1:p.Pro101Leu | |
| ENST00000261643.7:c.302C>T | ENSP00000261643.3:p.Pro101Leu | |
| ENST00000429152.6:c.302C>T | ENSP00000397750.2:p.Pro101Leu | |
| ENST00000580561.1:c.177+2403C>T | ENSP00000462190.1:n.177+2403C>T | |
| ENST00000581931.5:c.302C>T | ENSP00000462512.1:p.Pro101Leu | |
| NM_001303.3:c.302C>T | NP_001294.2:p.Pro101Leu | |
| XM_005256458.1:c.302C>T | XP_005256515.1:p.Pro101Leu | |
| XM_011523657.1:c.302C>T | XP_011521959.1:p.Pro101Leu | |
| XM_011523658.1:c.-150C>T | XP_011521960.1:n.-150C>T | |
| XR_933974.1:n.405C>T | ||
| XR_933975.1:n.405C>T | ||
| NM_001303.4:c.302C>T MANE Select | NP_001294.2:p.Pro101Leu |