Revel Score:
ENST00000259727 (MANE Select)
0.234
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16290530T>G , CM000668.2:g.16290530T>G | GRCh38 |
| NC_000006.11:g.16290761T>G , CM000668.1:g.16290761T>G | GRCh37 |
| NC_000006.10:g.16398740T>G | NCBI36 |
| NG_013303.1:g.56951T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259727.5:c.766T>G MANE Select | ENSP00000259727.4:p.Phe256Val | |
| ENST00000259727.4:c.766T>G | ENSP00000259727.4:p.Phe256Val | |
| ENST00000540478.1:n.586T>G | ||
| ENST00000543191.5:n.261T>G | ||
| ENST00000544145.1:n.120T>G | ||
| NM_006877.3:c.766T>G | NP_006868.3:p.Phe256Val | |
| XM_011514508.1:c.909T>G | XP_011512810.1:p.Cys303Trp | |
| XM_011514508.2:c.909T>G | XP_011512810.1:p.Cys303Trp | |
| NM_006877.4:c.766T>G MANE Select | NP_006868.3:p.Phe256Val |