Revel Score:
ENST00000252999 (MANE Select)
0.028
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62330822A>C , CM000682.2:g.62330822A>C | GRCh38 |
| NC_000020.10:g.60905878A>C , CM000682.1:g.60905878A>C | GRCh37 |
| NC_000020.9:g.60339273A>C | NCBI36 |
| NG_050626.1:g.41499T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252999.7:c.3773T>G MANE Select | ENSP00000252999.3:p.Met1258Arg | |
| NM_005560.4:c.3773T>G | NP_005551.3:p.Met1258Arg | |
| XM_006723796.2:c.3773T>G | XP_006723859.1:p.Met1258Arg | |
| XM_006723798.2:c.3773T>G | XP_006723861.1:p.Met1258Arg | |
| XM_011528818.1:c.3635T>G | XP_011527120.1:p.Met1212Arg | |
| XM_011528819.1:c.3500T>G | XP_011527121.1:p.Met1167Arg | |
| XR_936532.1:n.3845T>G | ||
| XM_006723796.3:c.3773T>G | XP_006723859.1:p.Met1258Arg | |
| XM_006723798.3:c.3773T>G | XP_006723861.1:p.Met1258Arg | |
| XM_011528818.2:c.3635T>G | XP_011527120.1:p.Met1212Arg | |
| XM_011528819.2:c.3500T>G | XP_011527121.1:p.Met1167Arg | |
| XR_936532.2:n.3844T>G | ||
| NM_005560.5:c.3773T>G | NP_005551.3:p.Met1258Arg | |
| NM_005560.6:c.3773T>G MANE Select | NP_005551.3:p.Met1258Arg |