Revel Score:
ENST00000369935
0.411
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154195934G>A , CM000685.2:g.154195934G>A | GRCh38 |
| NC_000023.10:g.153461425G>A , CM000685.1:g.153461425G>A | GRCh37 |
| NG_011606.1:g.18341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.989G>A MANE Select | ENSP00000472316.1:p.Arg330Gln | |
| ENST00000595290.5:c.989G>A | ENSP00000472316.1:p.Arg330Gln | |
| ENST00000596998.2:c.387G>A | ||
| NM_000513.2:c.989G>A MANE Select | NP_000504.1:p.Arg330Gln |