COSMIC:
COSM3761706 (not active)
COSM4783709 (not active)
Revel Score:
ENST00000262077 (MANE Select)
0.093
ENST00000430136
0.093
ENST00000537253
0.093
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30747505 (NFE)
Genomes Max Group AF
0.29557933 (NFE)
Exomes Max Group AF
0.32462439 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.17675015T>C , CM000668.2:g.17675015T>C | GRCh38 |
| NC_000006.11:g.17675246T>C , CM000668.1:g.17675246T>C | GRCh37 |
| NC_000006.10:g.17783225T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262077.3:c.742A>G MANE Select | ENSP00000262077.3:p.Ile248Val | |
| ENST00000262077.2:c.742A>G | ENSP00000262077.2:p.Ile248Val | |
| ENST00000537253.5:c.742A>G | ENSP00000444029.1:p.Ile248Val | |
| ENST00000613258.4:c.742A>G | ENSP00000478627.1:p.Ile248Val | |
| NM_001278209.1:c.742A>G | NP_001265138.1:p.Ile248Val | |
| NM_001278210.1:c.742A>G | NP_001265139.1:p.Ile248Val | |
| NM_005124.3:c.742A>G | NP_005115.2:p.Ile248Val | |
| XM_005249507.1:c.742A>G | XP_005249564.1:p.Ile248Val | |
| XM_006715290.1:c.742A>G | XP_006715353.1:p.Ile248Val | |
| XM_006715291.2:c.742A>G | XP_006715354.1:p.Ile248Val | |
| XM_011515028.1:c.742A>G | XP_011513330.1:p.Ile248Val | |
| XM_005249507.3:c.742A>G | XP_005249564.1:p.Ile248Val | |
| XM_006715290.3:c.742A>G | XP_006715353.1:p.Ile248Val | |
| XM_006715291.4:c.742A>G | XP_006715354.1:p.Ile248Val | |
| XM_011515028.3:c.742A>G | XP_011513330.1:p.Ile248Val | |
| XM_017011594.2:c.742A>G | XP_016867083.1:p.Ile248Val | |
| NM_005124.4:c.742A>G MANE Select | NP_005115.2:p.Ile248Val | |
| NM_001278209.2:c.742A>G | NP_001265138.1:p.Ile248Val | |
| NM_001278210.2:c.742A>G | NP_001265139.1:p.Ile248Val |