Revel Score:
ENST00000305188 (MANE Select)
0.932
ENST00000397418
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27799658T>G , CM000670.2:g.27799658T>G | GRCh38 |
| NC_000008.10:g.27657175T>G , CM000670.1:g.27657175T>G | GRCh37 |
| NC_000008.9:g.27713094T>G | NCBI36 |
| NG_008117.1:g.30118T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.1615T>G MANE Select | ENSP00000306999.8:p.Trp539Gly | |
| ENST00000305188.12:c.1615T>G | ENSP00000306999.8:p.Trp539Gly | |
| ENST00000397418.4:c.559T>G | ENSP00000380563.2:p.Trp187Gly | |
| ENST00000522378.5:c.*590T>G | ENSP00000428928.1:n.*590T>G | |
| NM_001017420.2:c.1615T>G | NP_001017420.1:p.Trp539Gly | |
| XM_011544421.1:c.1615T>G | XP_011542723.1:p.Trp539Gly | |
| XM_011544422.1:c.1615T>G | XP_011542724.1:p.Trp539Gly | |
| XR_949378.1:n.1699T>G | ||
| XR_949379.1:n.1699T>G | ||
| XM_011544421.2:c.1615T>G | XP_011542723.1:p.Trp539Gly | |
| XM_011544422.2:c.1615T>G | XP_011542724.1:p.Trp539Gly | |
| XR_949378.3:n.1699T>G | ||
| NM_001017420.3:c.1615T>G MANE Select | NP_001017420.1:p.Trp539Gly |