ClinGen Evidence Repository:
Classification
Benign
COSMIC:
COSM5904807 (not active)
Revel Score:
ENST00000303115 (MANE Select)
0.019
ENST00000505875
0.019
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33853442 (AFR)
Genomes Max Group AF
0.33717544 (AFR)
Exomes Max Group AF
0.33699148 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35876172A>G , CM000667.2:g.35876172A>G | GRCh38 |
| NC_000005.9:g.35876274A>G , CM000667.1:g.35876274A>G | GRCh37 |
| NC_000005.8:g.35912031A>G | NCBI36 |
| NG_009567.1:g.24284A>G , LRG_74:g.24284A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.1066A>G MANE Select | ENSP00000306157.3:p.Ile356Val | |
| ENST00000303115.7:c.1066A>G | ENSP00000306157.3:p.Ile356Val | |
| ENST00000505093.1:c.381A>G | ENSP00000426069.1:n.381A>G | |
| ENST00000505875.1:n.364A>G | ||
| ENST00000514217.5:c.*260A>G | ENSP00000427688.1:n.*260A>G | |
| NM_002185.3:c.1066A>G | NP_002176.2:p.Ile356Val | |
| NR_120485.1:n.906A>G | ||
| NM_002185.4:c.1066A>G | NP_002176.2:p.Ile356Val | |
| NR_120485.2:n.932A>G | ||
| XM_005248299.4:c.*183A>G | XP_005248356.1:n.*183A>G | |
| NM_002185.5:c.1066A>G MANE Select | NP_002176.2:p.Ile356Val | |
| NR_120485.3:n.890A>G |