Revel Score:
ENST00000298480
0.053
ENST00000371757 (MANE Select)
0.053
gnomAD v4:
Joint Max Group AF
0.0000206 (NFE)
Exomes Max Group AF
0.00002197 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135714602C>T , CM000671.2:g.135714602C>T | GRCh38 |
| NC_000009.11:g.138606448C>T , CM000671.1:g.138606448C>T | GRCh37 |
| NC_000009.10:g.137746269C>T | NCBI36 |
| NG_033070.1:g.17418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.136C>T MANE Select | ENSP00000360822.2:p.Leu46Phe | |
| ENST00000636613.1:n.92C>T | ||
| ENST00000674572.1:c.-24C>T | ENSP00000501742.1:n.-24C>T | |
| ENST00000371757.6:c.136C>T | ENSP00000360822.2:p.Leu46Phe | |
| ENST00000460750.5:c.136C>T | ENSP00000418777.1:p.Leu46Phe | |
| ENST00000473941.5:c.-24C>T | ENSP00000420764.1:n.-24C>T | |
| ENST00000486577.6:c.-24C>T | ENSP00000417578.3:n.-24C>T | |
| ENST00000487664.5:c.136C>T | ENSP00000417851.2:p.Leu46Phe | |
| ENST00000628528.2:c.110+12234C>T | ENSP00000486374.1:n.110+12234C>T | |
| NM_001272003.1:c.110+12234C>T | NP_001258932.1:n.110+12234C>T | |
| NM_020822.2:c.136C>T | NP_065873.2:p.Leu46Phe | |
| XM_011518877.1:c.271C>T | XP_011517179.1:p.Leu91Phe | |
| XM_011518878.1:c.271C>T | XP_011517180.1:p.Leu91Phe | |
| XM_011518879.1:c.271C>T | XP_011517181.1:p.Leu91Phe | |
| XM_011518877.3:c.271C>T | XP_011517179.1:p.Leu91Phe | |
| XM_011518878.3:c.271C>T | XP_011517180.1:p.Leu91Phe | |
| XM_011518879.3:c.271C>T | XP_011517181.1:p.Leu91Phe | |
| NM_020822.3:c.136C>T MANE Select | NP_065873.2:p.Leu46Phe | |
| NM_001272003.2:c.110+12234C>T | NP_001258932.1:n.110+12234C>T |