CIViC:
COSMIC:
COSM146404 (not active)
COSM3927609 (not active)
Revel Score:
ENST00000376592
0.842
ENST00000376583
0.842
ENST00000376590 (MANE Select)
0.842
ENST00000376585
0.842
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47311128 (AMR)
Genomes Max Group AF
0.43494122 (AMR)
Exomes Max Group AF
0.48390637 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796321G>A , CM000663.2:g.11796321G>A | GRCh38 |
| NC_000001.10:g.11856378G>A , CM000663.1:g.11856378G>A | GRCh37 |
| NC_000001.9:g.11778965G>A | NCBI36 |
| NG_013351.1:g.14783C>T , LRG_726:g.14783C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.665C>T | ENSP00000365669.3:p.Ala222Val | |
| ENST00000376585.6:c.788C>T | ENSP00000365770.1:p.Ala263Val | |
| ENST00000376590.9:c.665C>T MANE Select | ENSP00000365775.3:p.Ala222Val | |
| ENST00000376592.6:c.665C>T | ENSP00000365777.1:p.Ala222Val | |
| ENST00000423400.7:c.785C>T | ENSP00000398908.3:p.Ala262Val | |
| ENST00000641407.1:c.665C>T | ENSP00000493098.1:p.Ala222Val | |
| ENST00000641446.1:c.665C>T | ENSP00000493262.1:p.Ala222Val | |
| ENST00000641721.1:n.644-973C>T | ||
| ENST00000641747.1:c.*177C>T | ENSP00000493116.1:n.*177C>T | |
| ENST00000641759.1:n.800C>T | ||
| ENST00000641805.1:n.948C>T | ||
| ENST00000641820.1:c.-71C>T | ENSP00000492937.1:n.-71C>T | |
| ENST00000376583.7:c.788C>T | ENSP00000365767.3:p.Ala263Val | |
| ENST00000376585.5:c.788C>T | ENSP00000365770.1:p.Ala263Val | |
| ENST00000376590.7:c.665C>T | ENSP00000365775.3:p.Ala222Val | |
| ENST00000376592.5:c.665C>T | ENSP00000365777.1:p.Ala222Val | |
| NM_005957.4:c.665C>T , LRG_726t1:c.665C>T | NP_005948.3:p.Ala222Val | |
| XM_005263458.2:c.788C>T | XP_005263515.1:p.Ala263Val | |
| XM_005263460.3:c.665C>T | XP_005263517.1:p.Ala222Val | |
| XM_005263461.3:c.665C>T | XP_005263518.1:p.Ala222Val | |
| XM_005263462.3:c.665C>T | XP_005263519.1:p.Ala222Val | |
| XM_005263463.2:c.419C>T | XP_005263520.1:p.Ala140Val | |
| XM_011541495.1:c.785C>T | XP_011539797.1:p.Ala262Val | |
| XM_011541496.1:c.788C>T | XP_011539798.1:p.Ala263Val | |
| NM_001330358.1:c.788C>T | NP_001317287.1:p.Ala263Val | |
| XM_005263460.5:c.665C>T | XP_005263517.1:p.Ala222Val | |
| XM_005263462.4:c.665C>T | XP_005263519.1:p.Ala222Val | |
| XM_005263463.4:c.419C>T | XP_005263520.1:p.Ala140Val | |
| XM_011541495.3:c.785C>T | XP_011539797.1:p.Ala262Val | |
| XM_011541496.3:c.788C>T | XP_011539798.1:p.Ala263Val | |
| XM_017001328.2:c.788C>T | XP_016856817.1:p.Ala263Val | |
| XM_024447198.1:c.419C>T | XP_024302966.1:p.Ala140Val | |
| XR_002956640.1:n.1532C>T | ||
| NM_005957.5:c.665C>T MANE Select | NP_005948.3:p.Ala222Val | |
| NM_001330358.2:c.788C>T | NP_001317287.1:p.Ala263Val |