Revel Score:
ENST00000262186 (MANE Select)
0.894
ENST00000430723
0.894
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974816A>G , CM000669.2:g.150974816A>G | GRCh38 |
| NC_000007.13:g.150671904A>G , CM000669.1:g.150671904A>G | GRCh37 |
| NC_000007.12:g.150302837A>G | NCBI36 |
| NG_008916.1:g.8111T>C , LRG_288:g.8111T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.202T>C MANE Select | ENSP00000262186.5:p.Phe68Leu | |
| ENST00000262186.9:c.202T>C | ENSP00000262186.5:p.Phe68Leu | |
| ENST00000430723.4:c.25T>C | ENSP00000387657.4:p.Phe9Leu | |
| ENST00000532957.5:n.425T>C | ||
| NM_000238.3:c.202T>C , LRG_288t1:c.202T>C | NP_000229.1:p.Phe68Leu | |
| NM_172056.2:c.202T>C , LRG_288t2:c.202T>C | NP_742053.1:p.Phe68Leu | |
| XM_011516186.1:c.202T>C | XP_011514488.1:p.Phe68Leu | |
| XM_011516186.3:c.202T>C | XP_011514488.1:p.Phe68Leu | |
| XM_017012196.1:c.25T>C | XP_016867685.1:p.Phe9Leu | |
| NM_000238.4:c.202T>C MANE Select | NP_000229.1:p.Phe68Leu |