Revel Score:
ENST00000542601
0.979
ENST00000222271 (MANE Select)
0.979
ENST00000425807
0.979
ENST00000454701
0.979
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18783125C>T , CM000681.2:g.18783125C>T | GRCh38 |
| NC_000019.9:g.18893935C>T , CM000681.1:g.18893935C>T | GRCh37 |
| NC_000019.8:g.18754935C>T | NCBI36 |
| NG_007070.1:g.13180G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.2156G>A MANE Select | ENSP00000222271.2:p.Gly719Asp | |
| ENST00000222271.6:c.2156G>A | ENSP00000222271.2:p.Gly719Asp | |
| ENST00000425807.1:c.1997G>A | ENSP00000403792.1:p.Gly666Asp | |
| ENST00000542601.6:c.2057G>A | ENSP00000439156.2:p.Gly686Asp | |
| NM_000095.2:c.2156G>A | NP_000086.2:p.Gly719Asp | |
| NM_000095.3:c.2156G>A MANE Select | NP_000086.2:p.Gly719Asp |