Revel Score:
ENST00000373304 (MANE Select)
0.042
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78272820G>C , CM000685.2:g.78272820G>C | GRCh38 |
| NC_000023.10:g.77528317G>C , CM000685.1:g.77528317G>C | GRCh37 |
| NC_000023.9:g.77414973G>C | NCBI36 |
| NG_012809.1:g.59771C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373304.4:c.927C>G MANE Select | ENSP00000362401.3:p.Phe309Leu | |
| ENST00000373304.3:c.927C>G | ENSP00000362401.3:p.Phe309Leu | |
| ENST00000614798.1:c.927C>G | ENSP00000478492.1:p.Phe309Leu | |
| NM_001282186.1:c.927C>G | NP_001269115.1:p.Phe309Leu | |
| NM_001282187.1:c.927C>G | NP_001269116.1:p.Phe309Leu | |
| NM_001282188.1:c.927C>G | NP_001269117.1:p.Phe309Leu | |
| NM_006639.3:c.927C>G | NP_006630.1:p.Phe309Leu | |
| NM_006639.4:c.927C>G MANE Select | NP_006630.1:p.Phe309Leu | |
| NM_001282187.2:c.927C>G | NP_001269116.1:p.Phe309Leu | |
| NM_001282188.2:c.927C>G | NP_001269117.1:p.Phe309Leu | |
| NM_001282186.2:c.927C>G | NP_001269115.1:p.Phe309Leu |