Revel Score:
ENST00000301141 (MANE Select)
0.253
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13223198 (EAS)
Genomes Max Group AF
0.11885831 (EAS)
Exomes Max Group AF
0.13306335 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40843869A>G , CM000681.2:g.40843869A>G | GRCh38 |
| NC_000019.9:g.41349774A>G , CM000681.1:g.41349774A>G | GRCh37 |
| NC_000019.8:g.46041614A>G | NCBI36 |
| NG_008377.1:g.11579T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1412T>C MANE Select | ENSP00000301141.4:p.Ile471Thr | |
| ENST00000301141.9:c.1412T>C | ENSP00000301141.4:p.Ile471Thr | |
| ENST00000599960.1:n.331T>C | ||
| ENST00000601627.1:c.119+42454A>G | ||
| ENST00000610301.1:c.1412T>C | ENSP00000477899.1:p.Ile471Thr | |
| NM_000762.5:c.1412T>C | NP_000753.3:p.Ile471Thr | |
| NM_000762.6:c.1412T>C MANE Select | NP_000753.3:p.Ile471Thr |