Revel Score:
ENST00000503569
0.908
ENST00000226760 (MANE Select)
0.908
ENST00000540337
0.908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301914G>T , CM000666.2:g.6301914G>T | GRCh38 |
| NC_000004.11:g.6303641G>T , CM000666.1:g.6303641G>T | GRCh37 |
| NC_000004.10:g.6354542G>T | NCBI36 |
| NG_011700.1:g.37065G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2155G>T | ENSP00000507852.1:p.Val719Phe | |
| ENST00000683395.1:c.2096G>T | ||
| ENST00000684087.1:c.2119G>T | ENSP00000506978.1:p.Val707Phe | |
| ENST00000506362.2:c.1870G>T | ENSP00000424103.2:p.Val624Phe | |
| ENST00000673642.1:c.1778G>T | ENSP00000501242.1:n.1778G>T | |
| ENST00000673991.1:c.2155G>T | ENSP00000501033.1:p.Val719Phe | |
| ENST00000226760.5:c.2119G>T MANE Select | ENSP00000226760.1:p.Val707Phe | |
| ENST00000503569.5:c.2119G>T | ENSP00000423337.1:p.Val707Phe | |
| ENST00000507765.1:n.2304G>T | ||
| NM_001145853.1:c.2119G>T | NP_001139325.1:p.Val707Phe | |
| NM_006005.3:c.2119G>T MANE Select | NP_005996.2:p.Val707Phe | |
| XM_017008586.1:c.2128G>T | XP_016864075.1:p.Val710Phe |