COSMIC:
COSM5019313 (not active)
Revel Score:
ENST00000337818
0.220
ENST00000397231
0.220
ENST00000216181 (MANE Select)
0.220
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60256435 (EAS)
Genomes Max Group AF
0.58838222 (EAS)
Exomes Max Group AF
0.60249911 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36288308T>C , CM000684.2:g.36288308T>C | GRCh38 |
| NC_000022.10:g.36684354T>C , CM000684.1:g.36684354T>C | GRCh37 |
| NC_000022.9:g.35014300T>C | NCBI36 |
| NG_011884.2:g.104711A>G , LRG_567:g.104711A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.4939A>G | ENSP00000510688.1:p.Ile1647Val | |
| ENST00000691109.1:n.5171A>G | ||
| ENST00000216181.11:c.4876A>G MANE Select | ENSP00000216181.6:p.Ile1626Val | |
| ENST00000216181.9:c.4876A>G | ENSP00000216181.5:p.Ile1626Val | |
| NM_002473.5:c.4876A>G , LRG_567t1:c.4876A>G | NP_002464.1:p.Ile1626Val | |
| XM_011530197.1:c.4876A>G | XP_011528499.1:p.Ile1626Val | |
| XM_011530197.2:c.4876A>G | XP_011528499.1:p.Ile1626Val | |
| XM_017028803.1:c.4876A>G | XP_016884292.1:p.Ile1626Val | |
| XM_017028804.1:c.4876A>G | XP_016884293.1:p.Ile1626Val | |
| XM_017028805.1:c.4876A>G | XP_016884294.1:p.Ile1626Val | |
| XM_017028806.1:c.4876A>G | XP_016884295.1:p.Ile1626Val | |
| NM_002473.6:c.4876A>G MANE Select | NP_002464.1:p.Ile1626Val |