COSMIC:
COSM4984992 (not active)
Revel Score:
ENST00000381418 (MANE Select)
0.122
ENST00000312841
0.122
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24370932 (AFR)
Genomes Max Group AF
0.23965443 (AFR)
Exomes Max Group AF
0.24599509 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22119197T>C , CM000670.2:g.22119197T>C | GRCh38 |
| NC_000008.10:g.21976710T>C , CM000670.1:g.21976710T>C | GRCh37 |
| NC_000008.9:g.22032655T>C | NCBI36 |
| NG_008166.1:g.16321A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381418.9:c.3064A>G MANE Select | ENSP00000370826.4:p.Thr1022Ala | |
| ENST00000680789.1:c.3064A>G | ENSP00000505181.1:p.Thr1022Ala | |
| ENST00000312841.9:c.3064A>G | ENSP00000326765.8:p.Thr1022Ala | |
| ENST00000381418.8:c.3064A>G | ENSP00000370826.4:p.Thr1022Ala | |
| ENST00000522039.1:n.196A>G | ||
| NM_005144.4:c.3064A>G | NP_005135.2:p.Thr1022Ala | |
| NM_018411.4:c.3064A>G | NP_060881.2:p.Thr1022Ala | |
| XM_005273569.1:c.3067A>G | XP_005273626.1:p.Thr1023Ala | |
| XM_006716367.1:c.3067A>G | XP_006716430.1:p.Thr1023Ala | |
| XM_005273569.2:c.3067A>G | XP_005273626.1:p.Thr1023Ala | |
| XM_006716367.2:c.3067A>G | XP_006716430.1:p.Thr1023Ala | |
| NM_005144.5:c.3064A>G MANE Select | NP_005135.2:p.Thr1022Ala |