gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000569 (NFE)
Exomes Max Group AF
0.00000507 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41531103G>A , CM000685.2:g.41531103G>A | GRCh38 |
| NC_000023.10:g.41390356G>A , CM000685.1:g.41390356G>A | GRCh37 |
| NC_000023.9:g.41275300G>A | NCBI36 |
| NG_016754.1:g.396932C>T | |
| NG_016754.2:g.396932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.2373C>T | ENSP00000367396.2:p.Tyr791= | |
| ENST00000378158.6:c.2370C>T | ENSP00000367400.2:p.Tyr790= | |
| ENST00000378163.7:c.2424C>T MANE Select | ENSP00000367405.1:p.Tyr808= | |
| ENST00000378166.9:c.2322C>T | ENSP00000367408.5:p.Tyr774= | |
| ENST00000378168.8:c.2427C>T | ENSP00000367410.4:p.Tyr809= | |
| ENST00000378179.9:c.1044C>T | ENSP00000367421.4:p.Tyr348= | |
| ENST00000421587.8:c.2355C>T | ENSP00000400526.4:p.Tyr785= | |
| ENST00000442742.7:c.2286C>T | ENSP00000398007.3:p.Tyr762= | |
| ENST00000642499.1:n.1203C>T | ||
| ENST00000643733.1:c.196C>T | ||
| ENST00000644219.1:c.2406C>T | ENSP00000495357.1:p.Tyr802= | |
| ENST00000644347.1:c.2337C>T | ENSP00000494183.1:p.Tyr779= | |
| ENST00000645566.1:c.2409C>T | ENSP00000494788.1:p.Tyr803= | |
| ENST00000645937.2:n.2655C>T | ||
| ENST00000645986.2:c.2391C>T | ENSP00000494409.2:p.Tyr797= | |
| ENST00000646087.2:c.1746C>T | ENSP00000495510.2:p.Tyr582= | |
| ENST00000646120.2:c.2340C>T | ENSP00000495291.2:p.Tyr780= | |
| ENST00000675354.1:c.2358C>T | ENSP00000502315.1:p.Tyr786= | |
| ENST00000378158.5:c.2373C>T | ENSP00000367400.1:p.Tyr791= | |
| ENST00000378163.5:c.2424C>T | ENSP00000367405.1:p.Tyr808= | |
| ENST00000378166.8:c.2409C>T | ENSP00000367408.4:p.Tyr803= | |
| ENST00000378168.6:c.789C>T | ENSP00000367410.2:p.Tyr263= | |
| ENST00000378179.7:c.1200C>T | ENSP00000367421.3:p.Tyr400= | |
| ENST00000421587.6:c.2337C>T | ENSP00000400526.2:p.Tyr779= | |
| ENST00000442742.6:c.2340C>T | ENSP00000398007.2:p.Tyr780= | |
| NM_001126054.2:c.2340C>T | NP_001119526.1:p.Tyr780= | |
| NM_001126055.2:c.2337C>T | NP_001119527.1:p.Tyr779= | |
| NM_003688.3:c.2409C>T | NP_003679.2:p.Tyr803= | |
| XM_005272686.3:c.2406C>T | XP_005272743.1:p.Tyr802= | |
| XM_006724566.2:c.2301C>T | XP_006724629.1:p.Tyr767= | |
| XM_011543993.1:c.2424C>T | XP_011542295.1:p.Tyr808= | |
| XM_011543994.1:c.2388C>T | XP_011542296.1:p.Tyr796= | |
| XM_011543995.1:c.2355C>T | XP_011542297.1:p.Tyr785= | |
| XM_011543996.1:c.2319C>T | XP_011542298.1:p.Tyr773= | |
| XM_011543997.1:c.1851C>T | XP_011542299.1:p.Tyr617= | |
| XM_005272686.4:c.2406C>T | XP_005272743.1:p.Tyr802= | |
| XM_006724566.3:c.2301C>T | XP_006724629.1:p.Tyr767= | |
| XM_011543993.2:c.2424C>T | XP_011542295.1:p.Tyr808= | |
| XM_011543994.2:c.2388C>T | XP_011542296.1:p.Tyr796= | |
| XM_011543995.2:c.2355C>T | XP_011542297.1:p.Tyr785= | |
| XM_011543996.2:c.2319C>T | XP_011542298.1:p.Tyr773= | |
| XM_011543997.3:c.1851C>T | XP_011542299.1:p.Tyr617= | |
| XM_024452473.1:c.1746C>T | XP_024308241.1:p.Tyr582= | |
| NM_001367721.1:c.2424C>T MANE Select | NP_001354650.1:p.Tyr808= |