COSMIC:
COSM3735975 (not active)
COSM4909299 (not active)
Revel Score:
ENST00000371730
0.086
ENST00000371733 (MANE Select)
0.086
ENST00000396122
0.086
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52140313 (AFR)
Genomes Max Group AF
0.51514654 (AFR)
Exomes Max Group AF
0.52514815 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.51361249T>C , CM000663.2:g.51361249T>C | GRCh38 |
| NC_000001.10:g.51826921T>C , CM000663.1:g.51826921T>C | GRCh37 |
| NC_000001.9:g.51599509T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493793.2:c.1524A>G | ENSP00000516332.1:p.Ile508Met | |
| ENST00000706287.1:c.2043A>G | ENSP00000516333.1:p.Ile681Met | |
| ENST00000706288.1:c.2376A>G | ENSP00000516334.1:p.Ile792Met | |
| ENST00000706289.1:n.1712A>G | ||
| ENST00000706290.1:n.1969A>G | ||
| ENST00000706291.1:c.*1414A>G | ENSP00000516335.1:n.*1414A>G | |
| ENST00000706292.1:c.2577A>G | ENSP00000516336.1:p.Ile859Met | |
| ENST00000371733.8:c.2466A>G MANE Select | ENSP00000360798.3:p.Ile822Met | |
| ENST00000371730.6:c.2064A>G | ENSP00000360795.2:p.Ile688Met | |
| ENST00000371733.7:c.2466A>G | ENSP00000360798.3:p.Ile822Met | |
| NM_001159969.1:c.1524A>G | NP_001153441.1:p.Ile508Met | |
| NM_001981.2:c.2466A>G | NP_001972.1:p.Ile822Met | |
| XM_005270618.1:c.2376A>G | XP_005270675.1:p.Ile792Met | |
| XM_006710446.1:c.1752A>G | XP_006710509.1:p.Ile584Met | |
| XM_011540991.1:c.1902A>G | XP_011539293.1:p.Ile634Met | |
| XM_005270618.3:c.2376A>G | XP_005270675.1:p.Ile792Met | |
| XM_017000615.2:c.2577A>G | XP_016856104.1:p.Ile859Met | |
| XM_017000616.2:c.2373A>G | XP_016856105.1:p.Ile791Met | |
| XM_017000617.2:c.2262A>G | XP_016856106.1:p.Ile754Met | |
| XM_017000618.2:c.2172A>G | XP_016856107.1:p.Ile724Met | |
| XM_017000619.2:c.1902A>G | XP_016856108.1:p.Ile634Met | |
| XM_017000620.2:c.1752A>G | XP_016856109.1:p.Ile584Met | |
| NM_001981.3:c.2466A>G MANE Select | NP_001972.1:p.Ile822Met | |
| NM_001159969.2:c.1524A>G | NP_001153441.1:p.Ile508Met |