Revel Score:
ENST00000261584 (MANE Select)
0.368
gnomAD v3:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603544C>A , CM000678.2:g.23603544C>A | GRCh38 |
| NC_000016.9:g.23614865C>A , CM000678.1:g.23614865C>A | GRCh37 |
| NC_000016.8:g.23522366C>A | NCBI36 |
| NG_007406.1:g.42814G>T , LRG_308:g.42814G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3482G>T | ENSP00000460666.3:p.Trp1161Leu | |
| ENST00000565038.2:c.*961G>T | ENSP00000459882.2:n.*961G>T | |
| ENST00000566069.6:c.*111G>T | ENSP00000459237.2:n.*111G>T | |
| ENST00000697377.2:c.3320G>T | ENSP00000513286.2:p.Trp1107Leu | |
| ENST00000697379.2:c.3482G>T | ENSP00000513287.2:p.Trp1161Leu | |
| ENST00000561514.2:c.2591G>T | ENSP00000460666.2:p.Trp864Leu | |
| ENST00000697374.1:c.2591G>T | ENSP00000513284.1:p.Trp864Leu | |
| ENST00000697375.1:n.4823G>T | ||
| ENST00000697376.1:c.*111G>T | ENSP00000513285.1:n.*111G>T | |
| ENST00000697377.1:c.2429G>T | ENSP00000513286.1:p.Trp810Leu | |
| ENST00000697378.1:n.3996G>T | ||
| ENST00000697379.1:c.2591G>T | ENSP00000513287.1:p.Trp864Leu | |
| ENST00000697380.1:n.2680G>T | ||
| ENST00000697381.1:n.2171G>T | ||
| ENST00000697382.1:c.*253G>T | ENSP00000513288.1:n.*253G>T | |
| ENST00000697383.1:c.1010G>T | ENSP00000513289.1:p.Trp337Leu | |
| ENST00000261584.9:c.3476G>T MANE Select | ENSP00000261584.4:p.Trp1159Leu | |
| ENST00000261584.8:c.3476G>T | ENSP00000261584.4:p.Trp1159Leu | |
| ENST00000566069.5:c.242G>T | ||
| ENST00000568219.5:c.2591G>T | ENSP00000454703.2:p.Trp864Leu | |
| NM_024675.3:c.3476G>T , LRG_308t1:c.3476G>T | NP_078951.2:p.Trp1159Leu | |
| XM_011545946.1:c.3482G>T | XP_011544248.1:p.Trp1161Leu | |
| XM_011545947.1:c.*111G>T | XP_011544249.1:n.*111G>T | |
| XM_011545948.1:c.2591G>T | XP_011544250.1:p.Trp864Leu | |
| XR_950851.1:n.4184G>T | ||
| XM_011545946.2:c.3482G>T | XP_011544248.1:p.Trp1161Leu | |
| XM_011545947.2:c.*111G>T | XP_011544249.1:n.*111G>T | |
| XM_011545948.2:c.2591G>T | XP_011544250.1:p.Trp864Leu | |
| XM_017023671.1:c.3245G>T | XP_016879160.1:p.Trp1082Leu | |
| XM_017023672.2:c.3239G>T | XP_016879161.1:p.Trp1080Leu | |
| XM_017023673.2:c.*111G>T | XP_016879162.1:n.*111G>T | |
| NM_024675.4:c.3476G>T MANE Select | NP_078951.2:p.Trp1159Leu |