Revel Score:
ENST00000252999 (MANE Select)
0.273
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62312525G>C , CM000682.2:g.62312525G>C | GRCh38 |
| NC_000020.10:g.60887581G>C , CM000682.1:g.60887581G>C | GRCh37 |
| NC_000020.9:g.60320976G>C | NCBI36 |
| NG_050626.1:g.59796C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252999.7:c.9235C>G MANE Select | ENSP00000252999.3:p.Arg3079Gly | |
| ENST00000370691.6:n.1184C>G | ||
| ENST00000491036.2:n.338C>G | ||
| NM_005560.4:c.9235C>G | NP_005551.3:p.Arg3079Gly | |
| XM_006723796.2:c.9235C>G | XP_006723859.1:p.Arg3079Gly | |
| XM_011528818.1:c.9097C>G | XP_011527120.1:p.Arg3033Gly | |
| XM_011528819.1:c.8962C>G | XP_011527121.1:p.Arg2988Gly | |
| XR_936532.1:n.9307C>G | ||
| XM_006723796.3:c.9235C>G | XP_006723859.1:p.Arg3079Gly | |
| XM_011528818.2:c.9097C>G | XP_011527120.1:p.Arg3033Gly | |
| XM_011528819.2:c.8962C>G | XP_011527121.1:p.Arg2988Gly | |
| XR_936532.2:n.9306C>G | ||
| NM_005560.5:c.9235C>G | NP_005551.3:p.Arg3079Gly | |
| NM_005560.6:c.9235C>G MANE Select | NP_005551.3:p.Arg3079Gly |