Revel Score:
ENST00000332710
0.472
ENST00000329705
0.472
ENST00000359500
0.472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19763273T>A , CM000684.2:g.19763273T>A | GRCh38 |
| NC_000022.10:g.19750796T>A , CM000684.1:g.19750796T>A | GRCh37 |
| NC_000022.9:g.18130796T>A | NCBI36 |
| NG_009229.1:g.11571T>A , LRG_226:g.11571T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700274.1:c.-5T>A | ENSP00000514909.1:n.-5T>A | |
| ENST00000649276.2:c.470T>A MANE Select | ENSP00000497003.1:p.Phe157Tyr | |
| ENST00000680333.1:c.443T>A | ENSP00000505472.1:p.Phe148Tyr | |
| ENST00000329705.11:c.443T>A | ENSP00000331176.7:p.Phe148Tyr | |
| ENST00000332710.8:c.443T>A | ENSP00000331791.4:p.Phe148Tyr | |
| ENST00000359500.7:c.443T>A | ENSP00000352483.3:p.Phe148Tyr | |
| ENST00000475303.1:n.117T>A | ||
| ENST00000621939.1:c.443T>A | ENSP00000477982.1:p.Phe148Tyr | |
| NM_005992.1:c.443T>A | NP_005983.1:p.Phe148Tyr | |
| NM_080646.1:c.443T>A | NP_542377.1:p.Phe148Tyr | |
| NM_080647.1:c.443T>A , LRG_226t1:c.443T>A | NP_542378.1:p.Phe148Tyr | |
| XM_006724312.1:c.443T>A | XP_006724375.1:p.Phe148Tyr | |
| XM_011530351.1:c.470T>A | XP_011528653.1:p.Phe157Tyr | |
| XM_006724312.2:c.443T>A | XP_006724375.1:p.Phe148Tyr | |
| XM_017028925.1:c.593T>A | XP_016884414.1:p.Phe198Tyr | |
| XM_017028926.1:c.443T>A | XP_016884415.1:p.Phe148Tyr | |
| XM_017028928.1:c.593T>A | XP_016884417.1:p.Phe198Tyr | |
| NM_001379200.1:c.470T>A MANE Select | NP_001366129.1:p.Phe157Tyr | |
| NM_080646.2:c.443T>A | NP_542377.1:p.Phe148Tyr |