ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007159 (NFE)
Genomes Max Group AF
0.00013491 (NFE)
Exomes Max Group AF
0.00006409 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122743129C>G , CM000666.2:g.122743129C>G | GRCh38 |
| NC_000004.11:g.123664284C>G , CM000666.1:g.123664284C>G | GRCh37 |
| NC_000004.10:g.123883734C>G | NCBI36 |
| NG_021203.1:g.15428C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.1237C>G MANE Select | ENSP00000319062.3:p.Leu413Val | |
| ENST00000314218.7:c.1237C>G | ENSP00000319062.3:p.Leu413Val | |
| ENST00000542236.5:c.1237C>G | ENSP00000438273.1:p.Leu413Val | |
| NM_001178007.1:c.1237C>G | NP_001171478.1:p.Leu413Val | |
| NM_152618.2:c.1237C>G | NP_689831.2:p.Leu413Val | |
| XM_011531680.1:c.1237C>G | XP_011529982.1:p.Leu413Val | |
| XM_011531680.2:c.1237C>G | XP_011529982.1:p.Leu413Val | |
| XM_017007831.1:c.1237C>G | XP_016863320.1:p.Leu413Val | |
| NM_152618.3:c.1237C>G MANE Select | NP_689831.2:p.Leu413Val | |
| NM_001178007.2:c.1237C>G | NP_001171478.1:p.Leu413Val |