COSMIC:
COSM3753433 (not active)
Revel Score:
ENST00000261405 (MANE Select)
0.179
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57477603 (AFR)
Genomes Max Group AF
0.57014398 (AFR)
Exomes Max Group AF
0.576306 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6044368T>C , CM000674.2:g.6044368T>C | GRCh38 |
| NC_000012.11:g.6153534T>C , CM000674.1:g.6153534T>C | GRCh37 |
| NC_000012.10:g.6023795T>C | NCBI36 |
| NG_009072.1:g.85303A>G | |
| NG_009072.2:g.85303A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2365A>G MANE Select | ENSP00000261405.5:p.Thr789Ala | |
| ENST00000261405.9:c.2365A>G | ENSP00000261405.5:p.Thr789Ala | |
| ENST00000538635.5:n.421-50434A>G | ||
| NM_000552.3:c.2365A>G | NP_000543.2:p.Thr789Ala | |
| NM_000552.4:c.2365A>G | NP_000543.2:p.Thr789Ala | |
| NM_000552.5:c.2365A>G MANE Select | NP_000543.3:p.Thr789Ala |