Revel Score:
ENST00000259727 (MANE Select)
0.250
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022382 (MID)
Genomes Max Group AF
0.00005293 (AMR)
Exomes Max Group AF
0.00023608 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16290532T>G , CM000668.2:g.16290532T>G | GRCh38 |
| NC_000006.11:g.16290763T>G , CM000668.1:g.16290763T>G | GRCh37 |
| NC_000006.10:g.16398742T>G | NCBI36 |
| NG_013303.1:g.56953T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259727.5:c.768T>G MANE Select | ENSP00000259727.4:p.Phe256Leu | |
| ENST00000259727.4:c.768T>G | ENSP00000259727.4:p.Phe256Leu | |
| ENST00000540478.1:n.588T>G | ||
| ENST00000543191.5:n.263T>G | ||
| ENST00000544145.1:n.122T>G | ||
| NM_006877.3:c.768T>G | NP_006868.3:p.Phe256Leu | |
| XM_011514508.1:c.911T>G | XP_011512810.1:p.Leu304Trp | |
| XM_011514508.2:c.911T>G | XP_011512810.1:p.Leu304Trp | |
| NM_006877.4:c.768T>G MANE Select | NP_006868.3:p.Phe256Leu |