Revel Score:
ENST00000371806 (MANE Select)
0.138
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134909954T>G , CM000671.2:g.134909954T>G | GRCh38 |
| NC_000009.11:g.137801800T>G , CM000671.1:g.137801800T>G | GRCh37 |
| NC_000009.10:g.136941621T>G | NCBI36 |
| NG_046982.2:g.13007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371806.4:c.825A>C MANE Select | ENSP00000360871.3:p.Gln275His | |
| ENST00000371806.3:c.825A>C | ENSP00000360871.3:p.Gln275His | |
| ENST00000616356.4:c.543-244A>C | ENSP00000479379.1:n.543-244A>C | |
| NM_002003.3:c.825A>C | NP_001994.2:p.Gln275His | |
| NM_002003.4:c.825A>C | NP_001994.2:p.Gln275His | |
| NM_002003.5:c.825A>C MANE Select | NP_001994.2:p.Gln275His |