Revel Score:
ENST00000371270 (MANE Select)
0.280
ENST00000535868
0.280
ENST00000535898
0.280
ENST00000539050
0.280
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15324921 (AFR)
Genomes Max Group AF
0.14948943 (AFR)
Exomes Max Group AF
0.15574243 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95058349T>A , CM000672.2:g.95058349T>A | GRCh38 |
| NC_000010.10:g.96818106T>A , CM000672.1:g.96818106T>A | GRCh37 |
| NC_000010.9:g.96808096T>A | NCBI36 |
| NG_007972.1:g.16149A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.805A>T MANE Select | ENSP00000360317.3:p.Ile269Phe | |
| ENST00000371270.5:c.805A>T | ENSP00000360317.3:p.Ile269Phe | |
| ENST00000479946.2:n.1109A>T | ||
| ENST00000490994.6:c.*591A>T | ENSP00000433314.1:n.*591A>T | |
| ENST00000525991.5:c.*380A>T | ENSP00000433842.1:n.*380A>T | |
| ENST00000526814.5:n.1060A>T | ||
| ENST00000527420.5:c.805A>T | ENSP00000433191.1:p.Ile269Phe | |
| ENST00000527953.5:n.1060A>T | ||
| ENST00000533320.5:n.1039A>T | ||
| ENST00000535898.5:c.499A>T | ENSP00000445062.1:p.Ile167Phe | |
| ENST00000539050.5:c.595A>T | ENSP00000442343.2:p.Ile199Phe | |
| ENST00000623108.3:c.595A>T | ENSP00000485110.1:p.Ile199Phe | |
| ENST00000628935.1:c.547A>T | ENSP00000487145.1:p.Ile183Phe | |
| NM_000770.3:c.805A>T MANE Select | NP_000761.3:p.Ile269Phe | |
| NM_001198853.1:c.595A>T | NP_001185782.1:p.Ile199Phe | |
| NM_001198854.1:c.499A>T | NP_001185783.1:p.Ile167Phe | |
| NM_001198855.1:c.595A>T | NP_001185784.1:p.Ile199Phe | |
| XR_945610.1:n.901A>T |