COSMIC:
COSM5358270 (not active)
COSM5358271 (not active)
Revel Score:
ENST00000348624
0.045
ENST00000401897
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00341454 (NFE)
Genomes Max Group AF
0.00273325 (NFE)
Exomes Max Group AF
0.00343809 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4783430G>A , CM000669.2:g.4783430G>A | GRCh38 |
| NC_000007.13:g.4823061G>A , CM000669.1:g.4823061G>A | GRCh37 |
| NC_000007.12:g.4789587G>A | NCBI36 |
| NG_028111.1:g.12800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.239G>A | ||
| ENST00000496303.6:n.340-259G>A | ||
| ENST00000647984.1:c.294G>A | ENSP00000497794.1:p.Ser98= | |
| ENST00000648925.1:c.481G>A | ENSP00000496830.1:p.Val161Met | |
| ENST00000649063.2:c.481G>A MANE Select | ENSP00000497815.1:p.Val161Met | |
| ENST00000650310.1:c.481G>A | ENSP00000497395.1:p.Val161Met | |
| ENST00000650451.1:c.180-773G>A | ENSP00000496998.1:n.180-773G>A | |
| ENST00000348624.4:c.481G>A | ENSP00000297562.4:p.Val161Met | |
| ENST00000477680.5:n.239G>A | ||
| ENST00000491375.1:n.108G>A | ||
| ENST00000496303.5:n.545G>A | ||
| NM_014855.2:c.481G>A | NP_055670.1:p.Val161Met | |
| XR_242109.1:n.506G>A | ||
| NM_001364858.1:c.13G>A | NP_001351787.1:p.Val5Met | |
| NM_014855.3:c.481G>A MANE Select | NP_055670.1:p.Val161Met | |
| NR_157345.1:n.574G>A |