COSMIC:
COSM1341730 (not active)
Revel Score:
ENST00000403528 (MANE Select)
0.075
ENST00000373706
0.075
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62279459 (SAS)
Genomes Max Group AF
0.60691221 (NFE)
Exomes Max Group AF
0.62421706 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31626924A>G , CM000663.2:g.31626924A>G | GRCh38 |
| NC_000001.10:g.32092525A>G , CM000663.1:g.32092525A>G | GRCh37 |
| NC_000001.9:g.31865112A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403528.7:c.1222A>G MANE Select | ENSP00000384387.2:p.Ile408Val | |
| ENST00000686354.1:n.1375A>G | ||
| ENST00000373705.1:c.1087+1806A>G | ENSP00000362809.1:n.1087+1806A>G | |
| ENST00000373706.9:c.1222A>G | ENSP00000362810.5:p.Ile408Val | |
| ENST00000403528.6:c.1222A>G | ENSP00000384387.2:p.Ile408Val | |
| ENST00000468521.1:n.1414-399A>G | ||
| NM_001525.2:c.1222A>G | NP_001516.2:p.Ile408Val | |
| XM_011541308.1:c.1222A>G | XP_011539610.1:p.Ile408Val | |
| XM_017001107.1:c.1087+1806A>G | XP_016856596.1:n.1087+1806A>G | |
| XM_024446602.1:c.1222A>G | XP_024302370.1:p.Ile408Val | |
| XM_024446603.1:c.1222A>G | XP_024302371.1:p.Ile408Val | |
| XM_024446604.1:c.1222A>G | XP_024302372.1:p.Ile408Val | |
| XM_024446605.1:c.1222A>G | XP_024302373.1:p.Ile408Val | |
| NM_001525.3:c.1222A>G MANE Select | NP_001516.2:p.Ile408Val |