gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92079156G>A , CM000669.2:g.92079156G>A | GRCh38 |
| NC_000007.13:g.91708470G>A , CM000669.1:g.91708470G>A | GRCh37 |
| NC_000007.12:g.91546406G>A | NCBI36 |
| NG_011623.1:g.143282G>A , LRG_331:g.143282G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.7023G>A MANE Select | ENSP00000348573.3:p.Val2341= | |
| ENST00000359028.7:c.7095G>A | ENSP00000351922.4:p.Val2365= | |
| ENST00000394534.7:c.516G>A | ENSP00000378042.3:p.Val172= | |
| ENST00000491695.2:c.1668G>A | ENSP00000494626.2:p.Val556= | |
| ENST00000674381.2:c.*6752G>A | ENSP00000501536.2:n.*6752G>A | |
| ENST00000679448.1:c.6999G>A | ENSP00000505889.1:p.Val2333= | |
| ENST00000679457.1:c.6999G>A | ENSP00000505450.1:p.Val2333= | |
| ENST00000679474.1:n.7221G>A | ||
| ENST00000679521.1:c.6969G>A | ENSP00000505456.1:p.Val2323= | |
| ENST00000679554.1:c.*6808G>A | ENSP00000506415.1:n.*6808G>A | |
| ENST00000679722.1:n.7245G>A | ||
| ENST00000679821.1:c.6765G>A | ENSP00000506040.1:p.Val2255= | |
| ENST00000680047.1:n.7221G>A | ||
| ENST00000680072.1:c.6846G>A | ENSP00000506581.1:p.Val2282= | |
| ENST00000680181.1:c.6930G>A | ENSP00000505548.1:p.Val2310= | |
| ENST00000680365.1:c.516G>A | ENSP00000506019.1:p.Val172= | |
| ENST00000680513.1:c.6882G>A | ENSP00000505284.1:p.Val2294= | |
| ENST00000680534.1:c.7062G>A | ENSP00000506674.1:p.Val2354= | |
| ENST00000680766.1:c.6999G>A | ENSP00000505204.1:p.Val2333= | |
| ENST00000680952.1:c.6999G>A | ENSP00000506407.1:p.Val2333= | |
| ENST00000681216.1:c.516G>A | ENSP00000505551.1:p.Val172= | |
| ENST00000681412.1:c.7023G>A | ENSP00000506486.1:p.Val2341= | |
| ENST00000681722.1:c.6999G>A | ENSP00000506566.1:p.Val2333= | |
| ENST00000356239.7:c.7023G>A | ENSP00000348573.3:p.Val2341= | |
| ENST00000358100.6:c.6882G>A | ENSP00000350813.3:p.Val2294= | |
| ENST00000359028.6:c.7056G>A | ENSP00000351922.3:p.Val2352= | |
| ENST00000394534.6:c.561G>A | ENSP00000378042.2:p.Val187= | |
| NM_005751.4:c.7023G>A , LRG_331t1:c.7023G>A | NP_005742.4:p.Val2341= | |
| NM_147185.2:c.6999G>A | NP_671714.1:p.Val2333= | |
| XM_006715827.1:c.6882G>A | XP_006715890.1:p.Val2294= | |
| XM_011515709.1:c.7170G>A | XP_011514011.1:p.Val2390= | |
| XM_011515710.1:c.7194G>A | XP_011514012.1:p.Val2398= | |
| XM_011515711.1:c.7134G>A | XP_011514013.1:p.Val2378= | |
| XM_011515712.1:c.7131G>A | XP_011514014.1:p.Val2377= | |
| XM_011515713.1:c.7116G>A | XP_011514015.1:p.Val2372= | |
| XM_011515714.1:c.7155G>A | XP_011514016.1:p.Val2385= | |
| XM_011515716.1:c.7074G>A | XP_011514018.1:p.Val2358= | |
| XM_011515717.1:c.7029G>A | XP_011514019.1:p.Val2343= | |
| XM_011515718.1:c.7059G>A | XP_011514020.1:p.Val2353= | |
| XM_011515719.1:c.7035G>A | XP_011514021.1:p.Val2345= | |
| XM_011515720.1:c.6918G>A | XP_011514022.1:p.Val2306= | |
| XM_011515721.1:c.1683G>A | XP_011514023.1:p.Val561= | |
| XM_011515722.1:c.1644G>A | XP_011514024.1:p.Val548= | |
| XM_017011642.2:c.7158G>A | XP_016867131.1:p.Val2386= | |
| XM_017011643.2:c.7119G>A | XP_016867132.1:p.Val2373= | |
| XM_017011644.2:c.7158G>A | XP_016867133.1:p.Val2386= | |
| XM_017011645.2:c.7104G>A | XP_016867134.1:p.Val2368= | |
| XM_017011646.2:c.7119G>A | XP_016867135.1:p.Val2373= | |
| XM_017011647.2:c.7065G>A | XP_016867136.1:p.Val2355= | |
| XM_017011648.2:c.7062G>A | XP_016867137.1:p.Val2354= | |
| XM_017011649.2:c.7095G>A | XP_016867138.1:p.Val2365= | |
| XM_017011650.2:c.7023G>A | XP_016867139.1:p.Val2341= | |
| XM_017011651.2:c.7017G>A | XP_016867140.1:p.Val2339= | |
| XM_017011652.2:c.7158G>A | XP_016867141.1:p.Val2386= | |
| XM_017011653.2:c.6930G>A | XP_016867142.1:p.Val2310= | |
| XM_017011654.2:c.6882G>A | XP_016867143.1:p.Val2294= | |
| XM_017011655.2:c.6786G>A | XP_016867144.1:p.Val2262= | |
| XM_017011656.2:c.6786G>A | XP_016867145.1:p.Val2262= | |
| XM_017011657.2:c.2823G>A | XP_016867146.1:p.Val941= | |
| XM_017011658.2:c.1707G>A | XP_016867147.1:p.Val569= | |
| XM_017011659.2:c.1668G>A | XP_016867148.1:p.Val556= | |
| XM_017011660.2:c.1668G>A | XP_016867149.1:p.Val556= | |
| XM_024446631.1:c.6921G>A | XP_024302399.1:p.Val2307= | |
| NM_147185.3:c.6999G>A | NP_671714.1:p.Val2333= | |
| NM_001379277.1:c.1668G>A | NP_001366206.1:p.Val556= | |
| NM_005751.5:c.7023G>A MANE Select | NP_005742.4:p.Val2341= |