ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00626885 (SAS)
Genomes Max Group AF
0.00602717 (NFE)
Exomes Max Group AF
0.00635013 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155291858C>T , CM000663.2:g.155291858C>T | GRCh38 |
| NC_000001.10:g.155261649C>T , CM000663.1:g.155261649C>T | GRCh37 |
| NC_000001.9:g.153528273C>T | NCBI36 |
| NG_011677.1:g.14577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.1516G>A MANE Select | ENSP00000339933.4:p.Val506Ile | |
| ENST00000342741.4:c.1516G>A | ENSP00000339933.4:p.Val506Ile | |
| ENST00000392414.7:c.1423G>A | ENSP00000376214.3:p.Val475Ile | |
| NM_000298.5:c.1516G>A | NP_000289.1:p.Val506Ile | |
| NM_181871.3:c.1423G>A | NP_870986.1:p.Val475Ile | |
| XM_005245266.3:c.1675G>A | XP_005245323.1:p.Val559Ile | |
| XM_006711386.2:c.1324G>A | XP_006711449.1:p.Val442Ile | |
| XM_011509640.1:c.1324G>A | XP_011507942.1:p.Val442Ile | |
| NM_000298.6:c.1516G>A MANE Select | NP_000289.1:p.Val506Ile | |
| XM_006711386.4:c.1324G>A | XP_006711449.1:p.Val442Ile | |
| XM_011509640.3:c.1324G>A | XP_011507942.1:p.Val442Ile | |
| NM_181871.4:c.1423G>A | NP_870986.1:p.Val475Ile |