ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56460184T>G , CM000668.2:g.56460184T>G | GRCh38 |
| NC_000006.11:g.56324982T>G , CM000668.1:g.56324982T>G | GRCh37 |
| NC_000006.10:g.56432941T>G | NCBI36 |
| NG_029322.1:g.187713A>C | |
| NG_029322.2:g.499445A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.16178A>C | ENSP00000400883.3:p.Glu5393Ala | |
| ENST00000449297.7:c.16367A>C | ENSP00000393082.3:p.Glu5456Ala | |
| ENST00000520645.6:c.15953A>C | ENSP00000431030.2:p.Glu5318Ala | |
| ENST00000340834.10:c.7715A>C | ENSP00000489032.2:p.Glu2572Ala | |
| ENST00000651289.1:c.1560A>C | ||
| ENST00000651457.1:n.4752A>C | ||
| ENST00000651790.1:c.3727A>C | ||
| ENST00000651941.1:n.7524A>C | ||
| ENST00000680361.1:c.23141A>C MANE Select | ENSP00000505098.1:p.Glu7714Ala | |
| ENST00000244364.10:c.15200A>C | ENSP00000244364.6:p.Glu5067Ala | |
| ENST00000312431.10:c.16298A>C | ENSP00000307959.7:p.Glu5433Ala | |
| ENST00000361203.7:c.22070A>C | ENSP00000354508.3:p.Glu7357Ala | |
| ENST00000370754.9:c.16712A>C | ENSP00000359790.6:p.Glu5571Ala | |
| ENST00000370788.6:c.15812A>C | ENSP00000359824.2:p.Glu5271Ala | |
| ENST00000421834.6:c.16178A>C | ENSP00000400883.3:p.Glu5393Ala | |
| ENST00000466429.5:n.934A>C | ||
| ENST00000482156.5:n.1781A>C | ||
| ENST00000518464.5:n.1885A>C | ||
| ENST00000523292.5:c.463A>C | ||
| ENST00000523597.1:n.614A>C | ||
| NM_001144769.2:c.16712A>C | NP_001138241.1:p.Glu5571Ala | |
| NM_001144770.1:c.16298A>C | NP_001138242.1:p.Glu5433Ala | |
| NM_015548.4:c.15200A>C | NP_056363.2:p.Glu5067Ala | |
| NM_183380.3:c.16178A>C | NP_899236.1:p.Glu5393Ala | |
| XM_005249310.2:c.23141A>C | XP_005249367.1:p.Glu7714Ala | |
| XM_005249315.2:c.23042A>C | XP_005249372.1:p.Glu7681Ala | |
| XM_005249316.1:c.22856A>C | XP_005249373.1:p.Glu7619Ala | |
| XM_005249318.1:c.22727A>C | XP_005249375.1:p.Glu7576Ala | |
| XM_005249319.1:c.22628A>C | XP_005249376.1:p.Glu7543Ala | |
| XM_005249320.3:c.22607A>C | XP_005249377.1:p.Glu7536Ala | |
| XM_005249322.3:c.22586A>C | XP_005249379.1:p.Glu7529Ala | |
| XM_005249323.2:c.22508A>C | XP_005249380.1:p.Glu7503Ala | |
| XM_005249324.1:c.21530A>C | XP_005249381.1:p.Glu7177Ala | |
| XM_011514824.1:c.23069A>C | XP_011513126.1:p.Glu7690Ala | |
| XM_011514825.1:c.16739A>C | XP_011513127.1:p.Glu5580Ala | |
| XM_011514826.1:c.22070A>C | XP_011513128.1:p.Glu7357Ala | |
| XM_005249310.4:c.23141A>C | XP_005249367.1:p.Glu7714Ala | |
| XM_005249315.3:c.23042A>C | XP_005249372.1:p.Glu7681Ala | |
| XM_005249316.3:c.22856A>C | XP_005249373.1:p.Glu7619Ala | |
| XM_005249318.2:c.22727A>C | XP_005249375.1:p.Glu7576Ala | |
| XM_005249319.2:c.22628A>C | XP_005249376.1:p.Glu7543Ala | |
| XM_005249320.4:c.22607A>C | XP_005249377.1:p.Glu7536Ala | |
| XM_005249322.5:c.22586A>C | XP_005249379.1:p.Glu7529Ala | |
| XM_005249323.4:c.22508A>C | XP_005249380.1:p.Glu7503Ala | |
| XM_005249324.3:c.21530A>C | XP_005249381.1:p.Glu7177Ala | |
| XM_011514824.2:c.23069A>C | XP_011513126.1:p.Glu7690Ala | |
| XM_011514825.3:c.16739A>C | XP_011513127.1:p.Glu5580Ala | |
| XM_011514826.3:c.22070A>C | XP_011513128.1:p.Glu7357Ala | |
| XM_017011205.1:c.23168A>C | XP_016866694.1:p.Glu7723Ala | |
| XM_017011206.1:c.23150A>C | XP_016866695.1:p.Glu7717Ala | |
| XM_017011207.1:c.23105A>C | XP_016866696.1:p.Glu7702Ala | |
| XM_017011208.1:c.23096A>C | XP_016866697.1:p.Glu7699Ala | |
| XM_017011209.1:c.23078A>C | XP_016866698.1:p.Glu7693Ala | |
| XM_017011210.1:c.23057A>C | XP_016866699.1:p.Glu7686Ala | |
| XM_017011211.2:c.22985A>C | XP_016866700.1:p.Glu7662Ala | |
| XM_017011212.1:c.22934A>C | XP_016866701.1:p.Glu7645Ala | |
| XM_017011213.1:c.22841A>C | XP_016866702.1:p.Glu7614Ala | |
| XM_017011214.2:c.22769A>C | XP_016866703.1:p.Glu7590Ala | |
| XM_017011215.2:c.22730A>C | XP_016866704.1:p.Glu7577Ala | |
| XM_017011216.2:c.22658A>C | XP_016866705.1:p.Glu7553Ala | |
| XM_017011217.1:c.22544A>C | XP_016866706.1:p.Glu7515Ala | |
| XM_017011218.1:c.17735A>C | XP_016866707.1:p.Glu5912Ala | |
| XM_017011219.1:c.16910A>C | XP_016866708.1:p.Glu5637Ala | |
| XM_017011220.1:c.16784A>C | XP_016866709.1:p.Glu5595Ala | |
| XM_017011221.1:c.16676A>C | XP_016866710.1:p.Glu5559Ala | |
| XM_017011222.2:c.16598A>C | XP_016866711.1:p.Glu5533Ala | |
| XM_017011223.1:c.16583A>C | XP_016866712.1:p.Glu5528Ala | |
| XM_017011224.2:c.15812A>C | XP_016866713.1:p.Glu5271Ala | |
| XM_024446530.1:c.22487A>C | XP_024302298.1:p.Glu7496Ala | |
| NM_001144769.5:c.16712A>C | NP_001138241.1:p.Glu5571Ala | |
| NM_001144770.2:c.16298A>C | NP_001138242.1:p.Glu5433Ala | |
| NM_001374722.1:c.23069A>C | NP_001361651.1:p.Glu7690Ala | |
| NM_001374729.1:c.22070A>C | NP_001361658.1:p.Glu7357Ala | |
| NM_001374730.1:c.15812A>C | NP_001361659.1:p.Glu5271Ala | |
| NM_001374734.1:c.23096A>C | NP_001361663.1:p.Glu7699Ala | |
| NM_001374736.1:c.23141A>C MANE Select | NP_001361665.1:p.Glu7714Ala | |
| NM_015548.5:c.15200A>C | NP_056363.2:p.Glu5067Ala | |
| NM_183380.4:c.16178A>C | NP_899236.1:p.Glu5393Ala | |
| NM_001386100.1:c.16160A>C | NP_001373029.1:p.Glu5387Ala |