Revel Score:
ENST00000370629 (MANE Select)
0.726
ENST00000370628
0.726
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659060G>A , CM000685.2:g.136659060G>A | GRCh38 |
| NC_000023.10:g.135741219G>A , CM000685.1:g.135741219G>A | GRCh37 |
| NC_000023.9:g.135568885G>A | NCBI36 |
| NG_007280.1:g.15884G>A , LRG_141:g.15884G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*49G>A | ENSP00000512122.1:n.*49G>A | |
| ENST00000695725.1:c.178G>A | ENSP00000512123.1:p.Asp60Asn | |
| ENST00000695726.1:n.2399G>A | ||
| ENST00000695729.1:n.3234G>A | ||
| ENST00000370629.7:c.431G>A MANE Select | ENSP00000359663.2:p.Gly144Glu | |
| ENST00000370628.2:c.368G>A | ENSP00000359662.2:p.Gly123Glu | |
| ENST00000370629.6:c.431G>A | ENSP00000359663.2:p.Gly144Glu | |
| NM_000074.2:c.431G>A , LRG_141t1:c.431G>A | NP_000065.1:p.Gly144Glu | |
| NM_000074.3:c.431G>A MANE Select | NP_000065.1:p.Gly144Glu |