Revel Score:
ENST00000400518
0.685
ENST00000538798
0.685
ENST00000400521 (MANE Select)
0.685
ENST00000400525
0.685
ENST00000540474
0.685
ENST00000400519
0.685
ENST00000535882
0.685
ENST00000542719
0.685
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19880629T>A , CM000684.2:g.19880629T>A | GRCh38 |
| NC_000022.10:g.19868152T>A , CM000684.1:g.19868152T>A | GRCh37 |
| NC_000022.9:g.18248152T>A | NCBI36 |
| NG_011835.1:g.66208A>T , LRG_417:g.66208A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.1175A>T MANE Select | ENSP00000383365.1:p.Tyr392Phe | |
| ENST00000400518.5:c.1085A>T | ENSP00000383362.1:p.Tyr362Phe | |
| ENST00000400519.6:c.1172A>T | ENSP00000383363.1:p.Tyr391Phe | |
| ENST00000400521.6:c.1175A>T | ENSP00000383365.1:p.Tyr392Phe | |
| ENST00000400525.6:c.1106A>T | ENSP00000383369.3:p.Tyr369Phe | |
| ENST00000462330.5:c.98A>T | ENSP00000485603.2:p.Tyr33Phe | |
| ENST00000462843.2:c.125A>T | ENSP00000485466.2:p.Tyr42Phe | |
| ENST00000474308.5:c.1118A>T | ENSP00000485665.1:p.Tyr373Phe | |
| ENST00000485358.5:c.143A>T | ENSP00000485499.2:p.Tyr48Phe | |
| ENST00000487165.5:n.1269A>T | ||
| ENST00000494454.5:n.1249A>T | ||
| ENST00000495655.2:n.719A>T | ||
| ENST00000542719.6:c.887A>T | ENSP00000485128.2:p.Tyr296Phe | |
| ENST00000634471.1:n.244-358A>T | ||
| ENST00000634537.1:c.404A>T | ENSP00000489208.1:p.Tyr135Phe | |
| NM_006440.4:c.1175A>T | NP_006431.2:p.Tyr392Phe | |
| NM_001352300.1:c.1172A>T | NP_001339229.1:p.Tyr391Phe | |
| NM_001352301.1:c.1085A>T | NP_001339230.1:p.Tyr362Phe | |
| NM_001352302.1:c.887A>T | NP_001339231.1:p.Tyr296Phe | |
| NR_147957.1:n.1307A>T | ||
| NM_006440.5:c.1175A>T MANE Select | NP_006431.2:p.Tyr392Phe | |
| NM_001352300.2:c.1172A>T | NP_001339229.1:p.Tyr391Phe | |
| NR_147957.2:n.1133A>T | ||
| NM_001352301.2:c.1085A>T | NP_001339230.1:p.Tyr362Phe | |
| NM_001352302.2:c.887A>T | NP_001339231.1:p.Tyr296Phe |