Revel Score:
ENST00000321355
0.013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123906698T>G , CM000673.2:g.123906698T>G | GRCh38 |
| NC_000011.9:g.123777405T>G , CM000673.1:g.123777405T>G | GRCh37 |
| NC_000011.8:g.123282615T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641687.1:c.267T>G MANE Select | ENSP00000493391.1:p.Asp89Glu | |
| ENST00000321355.3:c.267T>G | ENSP00000325381.2:p.Asp89Glu | |
| NM_001005197.1:c.267T>G | NP_001005197.1:p.Asp89Glu | |
| NM_001005197.2:c.267T>G MANE Select | NP_001005197.1:p.Asp89Glu |