Revel Score:
ENST00000507827
0.820
ENST00000336356 (MANE Select)
0.820
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744813C>G , CM000666.2:g.154744813C>G | GRCh38 |
| NC_000004.11:g.155665965C>G , CM000666.1:g.155665965C>G | GRCh37 |
| NC_000004.10:g.155885415C>G | NCBI36 |
| NG_009110.1:g.5803C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.487C>G MANE Select | ENSP00000337224.3:p.His163Asp | |
| ENST00000336356.3:c.487C>G | ENSP00000337224.3:p.His163Asp | |
| ENST00000499392.1:n.472-3376C>G | ||
| ENST00000507827.5:c.487C>G | ENSP00000426761.1:p.His163Asp | |
| ENST00000510733.1:n.814C>G | ||
| NM_001301645.1:c.487C>G | NP_001288574.1:p.His163Asp | |
| NM_004744.4:c.487C>G | NP_004735.2:p.His163Asp | |
| XM_006714412.2:c.487C>G | XP_006714475.1:p.His163Asp | |
| XR_938793.1:n.823C>G | ||
| XR_938793.2:n.819C>G | ||
| NM_004744.5:c.487C>G MANE Select | NP_004735.2:p.His163Asp | |
| NM_001301645.2:c.487C>G | NP_001288574.1:p.His163Asp |