Revel Score:
ENST00000221283 (MANE Select)
0.848
ENST00000414284
0.848
ENST00000441779
0.848
ENST00000543902
0.848
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001781 (EAS)
Exomes Max Group AF
0.00000839 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7646322C>T , CM000681.2:g.7646322C>T | GRCh38 |
| NC_000019.9:g.7711208C>T , CM000681.1:g.7711208C>T | GRCh37 |
| NC_000019.8:g.7617208C>T | NCBI36 |
| NG_016709.1:g.14218C>T , LRG_165:g.14218C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.*1384C>T | ENSP00000469553.2:n.*1384C>T | |
| ENST00000600702.6:c.1430C>T | ENSP00000471737.2:p.Pro477Leu | |
| ENST00000698368.1:c.*1533C>T | ENSP00000513686.1:n.*1533C>T | |
| ENST00000698369.1:n.2580C>T | ||
| ENST00000698371.1:c.958C>T | ENSP00000513688.1:n.958C>T | |
| ENST00000221283.10:c.1430C>T MANE Select | ENSP00000221283.4:p.Pro477Leu | |
| ENST00000221283.9:c.1430C>T | ENSP00000221283.4:p.Pro477Leu | |
| ENST00000414284.6:c.1421C>T | ENSP00000409471.1:p.Pro474Leu | |
| ENST00000441779.6:c.1463C>T | ENSP00000413606.2:p.Pro488Leu | |
| ENST00000593854.5:n.588C>T | ||
| ENST00000595800.1:n.424C>T | ||
| ENST00000597068.5:c.*178C>T | ENSP00000471327.1:n.*178C>T | |
| ENST00000599400.1:c.431C>T | ||
| ENST00000599737.5:c.1160-840C>T | ENSP00000471585.1:n.1160-840C>T | |
| ENST00000600702.5:c.513C>T | ||
| ENST00000601061.1:n.185C>T | ||
| ENST00000602355.1:c.35C>T | ENSP00000473406.1:p.Pro12Leu | |
| ENST00000622853.4:c.1430C>T | ENSP00000480468.1:p.Pro477Leu | |
| NM_001127396.2:c.1421C>T | NP_001120868.1:p.Pro474Leu | |
| NM_001272034.1:c.1463C>T | NP_001258963.1:p.Pro488Leu | |
| NM_006949.3:c.1430C>T | NP_008880.2:p.Pro477Leu | |
| NR_073560.1:n.1454C>T | ||
| XR_001753741.2:n.1500C>T | ||
| NM_006949.4:c.1430C>T MANE Select | NP_008880.2:p.Pro477Leu | |
| NM_001127396.3:c.1421C>T | NP_001120868.1:p.Pro474Leu | |
| NM_001272034.2:c.1463C>T | NP_001258963.1:p.Pro488Leu | |
| NR_073560.2:n.1445C>T |