Revel Score:
ENST00000281928 (MANE Select)
0.509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116008990T>C , CM000674.2:g.116008990T>C | GRCh38 |
| NC_000012.11:g.116446795T>C , CM000674.1:g.116446795T>C | GRCh37 |
| NC_000012.10:g.114931178T>C | NCBI36 |
| NG_023366.1:g.273197A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.1423A>G MANE Select | ENSP00000281928.3:p.Lys475Glu | |
| ENST00000548743.2:c.1393A>G | ENSP00000448553.2:p.Lys465Glu | |
| ENST00000549786.2:c.851A>G | ||
| ENST00000648737.1:n.1187A>G | ||
| ENST00000649655.1:n.26A>G | ||
| ENST00000649762.1:n.1983A>G | ||
| ENST00000650226.1:c.1423A>G | ENSP00000496981.1:p.Lys475Glu | |
| ENST00000281928.7:c.1423A>G | ENSP00000281928.3:p.Lys475Glu | |
| ENST00000549755.1:n.156A>G | ||
| NM_015335.4:c.1423A>G | NP_056150.1:p.Lys475Glu | |
| XM_011538080.1:c.1423A>G | XP_011536382.1:p.Lys475Glu | |
| XM_011538081.1:c.1423A>G | XP_011536383.1:p.Lys475Glu | |
| XM_011538082.1:c.1393A>G | XP_011536384.1:p.Lys465Glu | |
| XM_011538080.2:c.1423A>G | XP_011536382.1:p.Lys475Glu | |
| XM_011538081.2:c.1423A>G | XP_011536383.1:p.Lys475Glu | |
| XM_011538082.2:c.1393A>G | XP_011536384.1:p.Lys465Glu | |
| XM_017019090.1:c.1423A>G | XP_016874579.1:p.Lys475Glu | |
| NM_015335.5:c.1423A>G MANE Select | NP_056150.1:p.Lys475Glu |