Revel Score:
ENST00000298910 (MANE Select)
0.893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40340313A>T , CM000674.2:g.40340313A>T | GRCh38 |
| NC_000012.11:g.40734115A>T , CM000674.1:g.40734115A>T | GRCh37 |
| NC_000012.10:g.39020382A>T | NCBI36 |
| NG_011709.1:g.120303A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.5968A>T MANE Select | ENSP00000298910.7:p.Ile1990Phe | |
| ENST00000679360.1:c.*4877A>T | ENSP00000505368.1:n.*4877A>T | |
| ENST00000679532.1:c.1742A>T | ||
| ENST00000680018.1:c.1413A>T | ENSP00000505347.1:n.1413A>T | |
| ENST00000680422.1:c.1613A>T | ||
| ENST00000680425.1:c.1135A>T | ENSP00000506459.1:n.1135A>T | |
| ENST00000680453.1:c.1425A>T | ||
| ENST00000680790.1:c.5713A>T | ENSP00000505335.1:p.Ile1905Phe | |
| ENST00000681136.1:n.1952A>T | ||
| ENST00000681696.1:c.1651A>T | ENSP00000505871.1:p.Ile551Phe | |
| ENST00000298910.11:c.5968A>T | ENSP00000298910.7:p.Ile1990Phe | |
| ENST00000430804.5:c.3264A>T | ||
| ENST00000479187.5:n.2649A>T | ||
| NM_198578.3:c.5968A>T | NP_940980.3:p.Ile1990Phe | |
| XM_005268629.2:c.5968A>T | XP_005268686.1:p.Ile1990Phe | |
| XM_011537877.1:c.5968A>T | XP_011536179.1:p.Ile1990Phe | |
| XM_011537878.1:c.5968A>T | XP_011536180.1:p.Ile1990Phe | |
| XM_011537879.1:c.4765A>T | XP_011536181.1:p.Ile1589Phe | |
| XM_005268629.4:c.5968A>T | XP_005268686.1:p.Ile1990Phe | |
| XM_011537877.3:c.5968A>T | XP_011536179.1:p.Ile1990Phe | |
| XM_017018787.1:c.2884A>T | XP_016874276.1:p.Ile962Phe | |
| XM_017018788.2:c.2230A>T | XP_016874277.1:p.Ile744Phe | |
| XM_024448833.1:c.4765A>T | XP_024304601.1:p.Ile1589Phe | |
| NM_198578.4:c.5968A>T MANE Select | NP_940980.4:p.Ile1990Phe |