Revel Score:
ENST00000438045
0.524
ENST00000248633 (MANE Select)
0.524
ENST00000428214
0.524
ENST00000545192
0.524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511021C>A , CM000669.2:g.92511021C>A | GRCh38 |
| NC_000007.13:g.92140335C>A , CM000669.1:g.92140335C>A | GRCh37 |
| NC_000007.12:g.91978271C>A | NCBI36 |
| NG_008341.1:g.22511G>T | |
| NG_008341.2:g.22511G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1510G>T MANE Select | ENSP00000248633.4:p.Val504Phe | |
| ENST00000248633.8:c.1510G>T | ENSP00000248633.4:p.Val504Phe | |
| ENST00000422866.1:c.411G>T | ||
| ENST00000428214.5:c.1510G>T | ENSP00000394413.1:p.Val504Phe | |
| ENST00000438045.5:c.544G>T | ENSP00000410438.1:p.Val182Phe | |
| ENST00000476923.1:n.271G>T | ||
| ENST00000484913.5:n.1549G>T | ||
| NM_000466.2:c.1510G>T | NP_000457.1:p.Val504Phe | |
| NM_001282677.1:c.1510G>T | NP_001269606.1:p.Val504Phe | |
| NM_001282678.1:c.886G>T | NP_001269607.1:p.Val296Phe | |
| XM_005250433.3:c.-157G>T | XP_005250490.1:n.-157G>T | |
| XR_242246.3:n.1606G>T | ||
| XM_017012319.2:c.-157G>T | XP_016867808.1:n.-157G>T | |
| XR_001744808.2:n.620G>T | ||
| XR_242246.5:n.1557G>T | ||
| NM_000466.3:c.1510G>T MANE Select | NP_000457.1:p.Val504Phe | |
| NM_001282677.2:c.1510G>T | NP_001269606.1:p.Val504Phe | |
| NM_001282678.2:c.886G>T | NP_001269607.1:p.Val296Phe |