Revel Score:
ENST00000299178 (MANE Select)
0.640
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63150429A>T , CM000674.2:g.63150429A>T | GRCh38 |
| NC_000012.11:g.63544209A>T , CM000674.1:g.63544209A>T | GRCh37 |
| NC_000012.10:g.61830476A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.408T>A MANE Select | ENSP00000299178.3:p.Phe136Leu | |
| ENST00000299178.3:c.408T>A | ENSP00000299178.2:p.Phe136Leu | |
| NM_000706.4:c.408T>A | NP_000697.1:p.Phe136Leu | |
| XM_005269002.3:c.417T>A | XP_005269059.1:p.Phe139Leu | |
| NM_000706.5:c.408T>A MANE Select | NP_000697.1:p.Phe136Leu |