Revel Score:
ENST00000256958 (MANE Select)
0.078
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04799357 (AFR)
Genomes Max Group AF
0.04663063 (AFR)
Exomes Max Group AF
0.04846715 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21202555C>G , CM000674.2:g.21202555C>G | GRCh38 |
| NC_000012.11:g.21355489C>G , CM000674.1:g.21355489C>G | GRCh37 |
| NC_000012.10:g.21246756C>G | NCBI36 |
| NG_011745.1:g.76362C>G , LRG_1022:g.76362C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1200C>G MANE Select | ENSP00000256958.2:p.Phe400Leu | |
| ENST00000256958.2:c.1200C>G | ENSP00000256958.2:p.Phe400Leu | |
| NM_006446.4:c.1200C>G , LRG_1022t1:c.1200C>G | NP_006437.3:p.Phe400Leu | |
| NM_006446.5:c.1200C>G MANE Select | NP_006437.3:p.Phe400Leu |