Revel Score:
ENST00000376228 (MANE Select)
0.232
ENST00000383329
0.232
ENST00000396254
0.232
ENST00000539307
0.232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271285C>T , CM000668.2:g.31271285C>T | GRCh38 |
| NC_000006.11:g.31239062C>T , CM000668.1:g.31239062C>T | GRCh37 |
| NC_000006.10:g.31347041C>T | NCBI36 |
| NG_029422.2:g.5847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.407G>A MANE Select | ENSP00000365402.5:p.Gly136Glu | |
| ENST00000376228.9:c.407G>A | ENSP00000365402.5:p.Gly136Glu | |
| ENST00000376237.8:c.390G>A | ENSP00000365412.4:p.Arg130= | |
| ENST00000383329.7:c.407G>A | ENSP00000372819.3:p.Gly136Glu | |
| ENST00000415537.1:c.405G>A | ||
| ENST00000484378.1:n.676G>A | ||
| ENST00000487245.5:n.766G>A | ||
| ENST00000495835.1:n.596G>A | ||
| NM_002117.5:c.407G>A | NP_002108.4:p.Gly136Glu | |
| NM_002117.6:c.407G>A MANE Select | NP_002108.4:p.Gly136Glu |