Revel Score:
ENST00000401675
0.209
ENST00000484558 (MANE Select)
0.209
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0050135 (MID)
Genomes Max Group AF
0.0000791 (NFE)
Exomes Max Group AF
0.00356118 (MID)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23767396G>A , CM000684.2:g.23767396G>A | GRCh38 |
| NC_000022.10:g.24109583G>A , CM000684.1:g.24109583G>A | GRCh37 |
| NC_000022.9:g.22439583G>A | NCBI36 |
| NG_034223.1:g.5577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.239C>T MANE Select | ENSP00000418428.3:p.Pro80Leu | |
| ENST00000401675.7:c.239C>T | ENSP00000384973.3:p.Pro80Leu | |
| ENST00000484558.2:c.239C>T | ENSP00000418428.2:p.Pro80Leu | |
| ENST00000517886.1:c.186C>T | ENSP00000429976.1:p.Ala62= | |
| ENST00000520222.1:c.41+438C>T | ENSP00000430042.1:n.41+438C>T | |
| NM_001301339.1:c.239C>T | NP_001288268.1:p.Pro80Leu | |
| NM_213720.2:c.239C>T | NP_998885.1:p.Pro80Leu | |
| NR_125755.1:n.284C>T | ||
| NR_125756.1:n.139+438C>T | ||
| NM_001301339.2:c.239C>T | NP_001288268.1:p.Pro80Leu | |
| NM_213720.3:c.239C>T MANE Select | NP_998885.1:p.Pro80Leu | |
| NR_125755.2:n.284C>T | ||
| NR_125756.2:n.139+438C>T |