Revel Score:
ENST00000361377
0.588
ENST00000510818
0.588
ENST00000450852 (MANE Plus Clinical)
0.588
ENST00000508922
0.588
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000741 (EAS)
Exomes Max Group AF
0.00000837 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53108643C>A , CM000667.2:g.53108643C>A | GRCh38 |
| NC_000005.9:g.52404473C>A , CM000667.1:g.52404473C>A | GRCh37 |
| NC_000005.8:g.52440230C>A | NCBI36 |
| NG_008435.2:g.6126G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.-169G>T MANE Select | ENSP00000380157.3:n.-169G>T | |
| ENST00000450852.8:c.19G>T MANE Plus Clinical | ENSP00000411022.3:p.Val7Phe | |
| ENST00000361377.8:c.19G>T | ENSP00000355160.4:p.Val7Phe | |
| ENST00000396954.7:c.-169G>T | ENSP00000380157.3:n.-169G>T | |
| ENST00000450852.7:c.19G>T | ENSP00000411022.3:p.Val7Phe | |
| ENST00000508922.5:c.19G>T | ENSP00000426274.1:p.Val7Phe | |
| ENST00000510818.6:c.19G>T | ENSP00000424267.2:p.Val7Phe | |
| ENST00000514553.2:n.17G>T | ||
| ENST00000527216.5:c.4G>T | ENSP00000435326.1:p.Val2Phe | |
| ENST00000582677.5:c.19G>T | ENSP00000462870.1:p.Val7Phe | |
| ENST00000584946.5:c.19G>T | ENSP00000464663.1:p.Val7Phe | |
| NM_004531.4:c.-169G>T | NP_004522.1:n.-169G>T | |
| NM_176806.3:c.19G>T | NP_789776.1:p.Val7Phe | |
| NM_004531.5:c.-169G>T MANE Select | NP_004522.1:n.-169G>T | |
| NM_176806.4:c.19G>T MANE Plus Clinical | NP_789776.1:p.Val7Phe |