Revel Score:
ENST00000399079
0.071
ENST00000374943
0.071
ENST00000434651 (MANE Select)
0.071
ENST00000399084
0.071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32665054G>C , CM000668.2:g.32665054G>C | GRCh38 |
| NC_000006.11:g.32632831G>C , CM000668.1:g.32632831G>C | GRCh37 |
| NC_000006.10:g.32740809G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434651.7:c.123C>G MANE Select | ENSP00000407332.2:p.Phe41Leu | |
| ENST00000374943.8:c.123C>G | ENSP00000364080.4:p.Phe41Leu | |
| ENST00000399079.7:c.123C>G | ENSP00000382029.3:p.Phe41Leu | |
| ENST00000399082.7:c.109+1445C>G | ENSP00000382032.3:n.109+1445C>G | |
| ENST00000399084.5:c.123C>G | ENSP00000382034.1:p.Phe41Leu | |
| ENST00000434651.6:c.123C>G | ENSP00000407332.2:p.Phe41Leu | |
| ENST00000484729.2:c.123C>G | ENSP00000436686.1:p.Phe41Leu | |
| ENST00000487676.1:n.154C>G | ||
| NM_001243961.1:c.123C>G | NP_001230890.1:p.Phe41Leu | |
| NM_002123.4:c.123C>G | NP_002114.3:p.Phe41Leu | |
| NM_001243961.2:c.123C>G | NP_001230890.1:p.Phe41Leu | |
| NM_002123.5:c.123C>G MANE Select | NP_002114.3:p.Phe41Leu |