ClinGen Evidence Repository:
Classification
Likely Pathogenic
Revel Score:
ENST00000356316
0.890
ENST00000397163 (MANE Select)
0.890
ENST00000357568
0.890
ENST00000349748
0.890
ENST00000318023
0.890
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42384536C>G , CM000677.2:g.42384536C>G | GRCh38 |
| NC_000015.9:g.42676734C>G , CM000677.1:g.42676734C>G | GRCh37 |
| NC_000015.8:g.40464026C>G | NCBI36 |
| NG_008660.1:g.41434C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.363C>G | ENSP00000183936.4:p.Ile121Met | |
| ENST00000357568.8:c.363C>G | ENSP00000350181.3:p.Ile121Met | |
| ENST00000397163.8:c.363C>G MANE Select | ENSP00000380349.3:p.Ile121Met | |
| ENST00000466369.5:n.594C>G | ||
| ENST00000483208.5:n.594C>G | ||
| ENST00000495723.1:n.594C>G | ||
| ENST00000549793.5:n.594C>G | ||
| ENST00000638141.2:n.378C>G | ||
| ENST00000673705.1:c.54C>G | ENSP00000501021.1:p.Ile18Met | |
| ENST00000318023.11:c.363C>G | ENSP00000326281.8:p.Ile121Met | |
| ENST00000349748.7:c.363C>G | ENSP00000183936.4:p.Ile121Met | |
| ENST00000357568.7:c.363C>G | ENSP00000350181.3:p.Ile121Met | |
| ENST00000397163.7:c.363C>G | ENSP00000380349.3:p.Ile121Met | |
| NM_000070.2:c.363C>G | NP_000061.1:p.Ile121Met | |
| NM_024344.1:c.363C>G | NP_077320.1:p.Ile121Met | |
| NM_173087.1:c.363C>G | NP_775110.1:p.Ile121Met | |
| NM_000070.3:c.363C>G MANE Select | NP_000061.1:p.Ile121Met | |
| NM_024344.2:c.363C>G | NP_077320.1:p.Ile121Met | |
| NM_173087.2:c.363C>G | NP_775110.1:p.Ile121Met |