COSMIC:
COSM3750893 (not active)
Revel Score:
ENST00000374695 (MANE Select)
0.150
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88002816 (EAS)
Genomes Max Group AF
0.86421981 (EAS)
Exomes Max Group AF
0.87978338 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21864961G>A , CM000663.2:g.21864961G>A | GRCh38 |
| NC_000001.10:g.22191454G>A , CM000663.1:g.22191454G>A | GRCh37 |
| NC_000001.9:g.22064041G>A | NCBI36 |
| NG_016740.1:g.77297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4508C>T MANE Select | ENSP00000363827.3:p.Ala1503Val | |
| ENST00000374695.7:c.4508C>T | ENSP00000363827.3:p.Ala1503Val | |
| NM_001291860.1:c.4511C>T | NP_001278789.1:p.Ala1504Val | |
| NM_005529.6:c.4508C>T | NP_005520.4:p.Ala1503Val | |
| XM_006710594.2:c.5054C>T | XP_006710657.1:p.Ala1685Val | |
| XM_006710595.2:c.5006C>T | XP_006710658.1:p.Ala1669Val | |
| XM_006710596.2:c.4985C>T | XP_006710659.1:p.Ala1662Val | |
| XM_006710597.2:c.4508C>T | XP_006710660.1:p.Ala1503Val | |
| XM_011541317.1:c.5057C>T | XP_011539619.1:p.Ala1686Val | |
| XM_011541318.1:c.5057C>T | XP_011539620.1:p.Ala1686Val | |
| XM_011541319.1:c.5057C>T | XP_011539621.1:p.Ala1686Val | |
| XM_011541320.1:c.5057C>T | XP_011539622.1:p.Ala1686Val | |
| XM_011541321.1:c.4562C>T | XP_011539623.1:p.Ala1521Val | |
| XM_011541322.1:c.5057C>T | XP_011539624.1:p.Ala1686Val | |
| XM_011541318.2:c.5057C>T | XP_011539620.1:p.Ala1686Val | |
| XM_017001120.1:c.4703C>T | XP_016856609.1:p.Ala1568Val | |
| XM_017001121.1:c.4652C>T | XP_016856610.1:p.Ala1551Val | |
| XM_017001122.1:c.4649C>T | XP_016856611.1:p.Ala1550Val | |
| NM_005529.7:c.4508C>T MANE Select | NP_005520.4:p.Ala1503Val | |
| NM_001291860.2:c.4511C>T | NP_001278789.1:p.Ala1504Val |