Revel Score:
ENST00000282572 (MANE Select)
0.134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231653G>C , CM000667.2:g.55231653G>C | GRCh38 |
| NC_000005.9:g.54527481G>C , CM000667.1:g.54527481G>C | GRCh37 |
| NC_000005.8:g.54563238G>C | NCBI36 |
| NG_034201.1:g.7065C>G | |
| NG_051620.1:g.663C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.775C>G MANE Select | ENSP00000282572.4:p.Gln259Glu | |
| ENST00000282572.4:c.775C>G | ENSP00000282572.4:p.Gln259Glu | |
| ENST00000501463.2:c.*755C>G | ENSP00000422485.1:n.*755C>G | |
| NM_021147.4:c.775C>G | NP_066970.3:p.Gln259Glu | |
| NR_125346.1:n.1345C>G | ||
| NR_125347.1:n.974C>G | ||
| NR_125348.1:n.839C>G | ||
| NM_021147.5:c.775C>G MANE Select | NP_066970.3:p.Gln259Glu | |
| NR_125346.2:n.1236C>G | ||
| NR_125347.2:n.865C>G |