Revel Score:
ENST00000366930 (MANE Select)
0.221
ENST00000366929
0.221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218436147G>A , CM000663.2:g.218436147G>A | GRCh38 |
| NC_000001.10:g.218609489G>A , CM000663.1:g.218609489G>A | GRCh37 |
| NC_000001.9:g.216676112G>A | NCBI36 |
| NG_027721.1:g.95814G>A | |
| NG_027721.2:g.95814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.932G>A MANE Select | ENSP00000355897.4:p.Arg311Lys | |
| ENST00000366929.4:c.1016G>A | ENSP00000355896.4:p.Arg339Lys | |
| ENST00000366930.8:c.932G>A | ENSP00000355897.4:p.Arg311Lys | |
| ENST00000479322.1:n.416G>A | ||
| NM_001135599.2:c.1016G>A | NP_001129071.1:p.Arg339Lys | |
| NM_003238.3:c.932G>A | NP_003229.1:p.Arg311Lys | |
| NM_001135599.3:c.1016G>A | NP_001129071.1:p.Arg339Lys | |
| NM_003238.4:c.932G>A | NP_003229.1:p.Arg311Lys | |
| NR_138148.1:n.2235G>A | ||
| NR_138149.1:n.2319G>A | ||
| NM_003238.5:c.932G>A | NP_003229.1:p.Arg311Lys | |
| NM_003238.6:c.932G>A MANE Select | NP_003229.1:p.Arg311Lys | |
| NM_001135599.4:c.1016G>A | NP_001129071.1:p.Arg339Lys | |
| NR_138148.2:n.2183G>A | ||
| NR_138149.2:n.2267G>A |