ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM3735923
COSM3735924
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40747303 (SAS)
Genomes Max Group AF
0.39270877 (SAS)
Exomes Max Group AF
0.40755667 (SAS)
Revel Score:
ENST00000376592
0.197
ENST00000376583
0.197
ENST00000376590 (MANE Select)
0.197
ENST00000376585
0.197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11794419T>G , CM000663.2:g.11794419T>G | GRCh38 |
| NC_000001.10:g.11854476T>G , CM000663.1:g.11854476T>G | GRCh37 |
| NC_000001.9:g.11777063T>G | NCBI36 |
| NG_013351.1:g.16685A>C , LRG_726:g.16685A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.1409A>C | ENSP00000365770.1:p.Glu470Ala | |
| ENST00000376590.9:c.1286A>C MANE Select | ENSP00000365775.3:p.Glu429Ala | |
| ENST00000376592.6:c.1286A>C | ENSP00000365777.1:p.Glu429Ala | |
| ENST00000423400.7:c.1406A>C | ENSP00000398908.3:p.Glu469Ala | |
| ENST00000641407.1:c.1286A>C | ENSP00000493098.1:p.Glu429Ala | |
| ENST00000641446.1:c.1286A>C | ENSP00000493262.1:p.Glu429Ala | |
| ENST00000641747.1:c.*798A>C | ENSP00000493116.1:n.*798A>C | |
| ENST00000641759.1:n.1655A>C | ||
| ENST00000641805.1:n.1803A>C | ||
| ENST00000641820.1:c.551A>C | ENSP00000492937.1:p.Glu184Ala | |
| ENST00000376583.7:c.1409A>C | ENSP00000365767.3:p.Glu470Ala | |
| ENST00000376585.5:c.1409A>C | ENSP00000365770.1:p.Glu470Ala | |
| ENST00000376590.7:c.1286A>C | ENSP00000365775.3:p.Glu429Ala | |
| ENST00000376592.5:c.1286A>C | ENSP00000365777.1:p.Glu429Ala | |
| NM_005957.4:c.1286A>C , LRG_726t1:c.1286A>C | NP_005948.3:p.Glu429Ala | |
| XM_005263458.2:c.1409A>C | XP_005263515.1:p.Glu470Ala | |
| XM_005263460.3:c.1286A>C | XP_005263517.1:p.Glu429Ala | |
| XM_005263461.3:c.1286A>C | XP_005263518.1:p.Glu429Ala | |
| XM_005263462.3:c.1286A>C | XP_005263519.1:p.Glu429Ala | |
| XM_005263463.2:c.1040A>C | XP_005263520.1:p.Glu347Ala | |
| XM_011541495.1:c.1406A>C | XP_011539797.1:p.Glu469Ala | |
| XM_011541496.1:c.1409A>C | XP_011539798.1:p.Glu470Ala | |
| NM_001330358.1:c.1409A>C | NP_001317287.1:p.Glu470Ala | |
| XM_005263460.5:c.1286A>C | XP_005263517.1:p.Glu429Ala | |
| XM_005263462.4:c.1286A>C | XP_005263519.1:p.Glu429Ala | |
| XM_005263463.4:c.1040A>C | XP_005263520.1:p.Glu347Ala | |
| XM_011541495.3:c.1406A>C | XP_011539797.1:p.Glu469Ala | |
| XM_011541496.3:c.1409A>C | XP_011539798.1:p.Glu470Ala | |
| XM_017001328.2:c.1409A>C | XP_016856817.1:p.Glu470Ala | |
| XM_024447198.1:c.1040A>C | XP_024302966.1:p.Glu347Ala | |
| XR_002956640.1:n.2387A>C | ||
| NM_005957.5:c.1286A>C MANE Select | NP_005948.3:p.Glu429Ala | |
| NM_001330358.2:c.1409A>C | NP_001317287.1:p.Glu470Ala |