Revel Score:
ENST00000261584 (MANE Select)
0.020
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603482T>C , CM000678.2:g.23603482T>C | GRCh38 |
| NC_000016.9:g.23614803T>C , CM000678.1:g.23614803T>C | GRCh37 |
| NC_000016.8:g.23522304T>C | NCBI36 |
| NG_007406.1:g.42876A>G , LRG_308:g.42876A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3544A>G | ENSP00000460666.3:p.Ile1182Val | |
| ENST00000565038.2:c.*1023A>G | ENSP00000459882.2:n.*1023A>G | |
| ENST00000566069.6:c.*173A>G | ENSP00000459237.2:n.*173A>G | |
| ENST00000697377.2:c.3382A>G | ENSP00000513286.2:p.Ile1128Val | |
| ENST00000697379.2:c.3544A>G | ENSP00000513287.2:p.Ile1182Val | |
| ENST00000561514.2:c.2653A>G | ENSP00000460666.2:p.Ile885Val | |
| ENST00000697374.1:c.2653A>G | ENSP00000513284.1:p.Ile885Val | |
| ENST00000697375.1:n.4885A>G | ||
| ENST00000697376.1:c.*173A>G | ENSP00000513285.1:n.*173A>G | |
| ENST00000697377.1:c.2491A>G | ENSP00000513286.1:p.Ile831Val | |
| ENST00000697378.1:n.4058A>G | ||
| ENST00000697379.1:c.2653A>G | ENSP00000513287.1:p.Ile885Val | |
| ENST00000697380.1:n.2742A>G | ||
| ENST00000697381.1:n.2233A>G | ||
| ENST00000697382.1:c.*315A>G | ENSP00000513288.1:n.*315A>G | |
| ENST00000697383.1:c.1072A>G | ENSP00000513289.1:p.Ile358Val | |
| ENST00000261584.9:c.3538A>G MANE Select | ENSP00000261584.4:p.Ile1180Val | |
| ENST00000261584.8:c.3538A>G | ENSP00000261584.4:p.Ile1180Val | |
| ENST00000566069.5:c.304A>G | ||
| ENST00000568219.5:c.2653A>G | ENSP00000454703.2:p.Ile885Val | |
| NM_024675.3:c.3538A>G , LRG_308t1:c.3538A>G | NP_078951.2:p.Ile1180Val | |
| XM_011545946.1:c.3544A>G | XP_011544248.1:p.Ile1182Val | |
| XM_011545947.1:c.*173A>G | XP_011544249.1:n.*173A>G | |
| XM_011545948.1:c.2653A>G | XP_011544250.1:p.Ile885Val | |
| XR_950851.1:n.4246A>G | ||
| XM_011545946.2:c.3544A>G | XP_011544248.1:p.Ile1182Val | |
| XM_011545947.2:c.*173A>G | XP_011544249.1:n.*173A>G | |
| XM_011545948.2:c.2653A>G | XP_011544250.1:p.Ile885Val | |
| XM_017023671.1:c.3307A>G | XP_016879160.1:p.Ile1103Val | |
| XM_017023672.2:c.3301A>G | XP_016879161.1:p.Ile1101Val | |
| XM_017023673.2:c.*173A>G | XP_016879162.1:n.*173A>G | |
| NM_024675.4:c.3538A>G MANE Select | NP_078951.2:p.Ile1180Val |