Revel Score:
ENST00000536101
0.127
ENST00000335473 (MANE Select)
0.127
ENST00000407587
0.127
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25770933G>T , CM000684.2:g.25770933G>T | GRCh38 |
| NC_000022.10:g.26166900G>T , CM000684.1:g.26166900G>T | GRCh37 |
| NC_000022.9:g.24496900G>T | NCBI36 |
| NG_046772.1:g.33790G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335473.12:c.1641G>T MANE Select | ENSP00000334563.8:p.Trp547Cys | |
| ENST00000335473.11:c.1641G>T | ENSP00000334563.7:p.Trp547Cys | |
| ENST00000407587.6:c.1641G>T | ENSP00000386096.2:p.Trp547Cys | |
| ENST00000418374.6:n.212G>T | ||
| ENST00000536101.5:c.1641G>T | ENSP00000441229.1:p.Trp547Cys | |
| ENST00000539302.5:c.1641G>T | ENSP00000437587.1:p.Trp547Cys | |
| NM_032608.5:c.1641G>T | NP_115997.5:p.Trp547Cys | |
| XM_005261786.3:c.1641G>T | XP_005261843.1:p.Trp547Cys | |
| XM_011530458.1:c.1767G>T | XP_011528760.1:p.Trp589Cys | |
| XM_011530459.1:c.1767G>T | XP_011528761.1:p.Trp589Cys | |
| XM_011530460.1:c.1767G>T | XP_011528762.1:p.Trp589Cys | |
| XM_011530461.1:c.1767G>T | XP_011528763.1:p.Trp589Cys | |
| XM_011530462.1:c.1767G>T | XP_011528764.1:p.Trp589Cys | |
| XM_011530463.1:c.1767G>T | XP_011528765.1:p.Trp589Cys | |
| XM_011530464.1:c.1767G>T | XP_011528766.1:p.Trp589Cys | |
| XM_011530465.1:c.1284G>T | XP_011528767.1:p.Trp428Cys | |
| XM_011530466.1:c.1767G>T | XP_011528768.1:p.Trp589Cys | |
| XM_011530467.1:c.1767G>T | XP_011528769.1:p.Trp589Cys | |
| NM_001318245.1:c.1641G>T | NP_001305174.1:p.Trp547Cys | |
| NM_032608.6:c.1641G>T | NP_115997.5:p.Trp547Cys | |
| XM_011530458.2:c.1767G>T | XP_011528760.1:p.Trp589Cys | |
| XM_011530459.2:c.1767G>T | XP_011528761.1:p.Trp589Cys | |
| XM_011530460.2:c.1767G>T | XP_011528762.1:p.Trp589Cys | |
| XM_011530461.2:c.1767G>T | XP_011528763.1:p.Trp589Cys | |
| XM_011530464.2:c.1767G>T | XP_011528766.1:p.Trp589Cys | |
| XM_011530465.2:c.1284G>T | XP_011528767.1:p.Trp428Cys | |
| XM_011530466.2:c.1767G>T | XP_011528768.1:p.Trp589Cys | |
| XM_017029012.1:c.1767G>T | XP_016884501.1:p.Trp589Cys | |
| XM_017029013.1:c.1767G>T | XP_016884502.1:p.Trp589Cys | |
| XM_017029014.1:c.1767G>T | XP_016884503.1:p.Trp589Cys | |
| XM_017029015.1:c.1641G>T | XP_016884504.1:p.Trp547Cys | |
| XM_017029017.1:c.-753G>T | XP_016884506.1:n.-753G>T | |
| NM_001318245.2:c.1641G>T | NP_001305174.1:p.Trp547Cys | |
| NM_032608.7:c.1641G>T MANE Select | NP_115997.5:p.Trp547Cys |