Revel Score:
ENST00000262186 (MANE Select)
0.812
ENST00000430723
0.812
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974851C>A , CM000669.2:g.150974851C>A | GRCh38 |
| NC_000007.13:g.150671939C>A , CM000669.1:g.150671939C>A | GRCh37 |
| NC_000007.12:g.150302872C>A | NCBI36 |
| NG_008916.1:g.8076G>T , LRG_288:g.8076G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.167G>T MANE Select | ENSP00000262186.5:p.Arg56Leu | |
| ENST00000262186.9:c.167G>T | ENSP00000262186.5:p.Arg56Leu | |
| ENST00000430723.4:c.-11G>T | ENSP00000387657.4:n.-11G>T | |
| ENST00000532957.5:n.390G>T | ||
| NM_000238.3:c.167G>T , LRG_288t1:c.167G>T | NP_000229.1:p.Arg56Leu | |
| NM_172056.2:c.167G>T , LRG_288t2:c.167G>T | NP_742053.1:p.Arg56Leu | |
| XM_011516186.1:c.167G>T | XP_011514488.1:p.Arg56Leu | |
| XM_011516186.3:c.167G>T | XP_011514488.1:p.Arg56Leu | |
| XM_017012196.1:c.-11G>T | XP_016867685.1:n.-11G>T | |
| NM_000238.4:c.167G>T MANE Select | NP_000229.1:p.Arg56Leu |