COSMIC:
COSM5493281 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007219 (AFR)
Genomes Max Group AF
0.00003242 (AFR)
Exomes Max Group AF
0.00007718 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437892C>T , CM000677.2:g.48437892C>T | GRCh38 |
| NC_000015.9:g.48730089C>T , CM000677.1:g.48730089C>T | GRCh37 |
| NC_000015.8:g.46517381C>T | NCBI36 |
| NG_008805.2:g.212897G>A , LRG_778:g.212897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6189G>A | ENSP00000453958.2:p.Ala2063= | |
| ENST00000674301.2:c.6189G>A | ENSP00000501333.2:p.Ala2063= | |
| ENST00000316623.10:c.6189G>A MANE Select | ENSP00000325527.5:p.Ala2063= | |
| ENST00000674301.1:c.1188G>A | ENSP00000501333.1:p.Ala396= | |
| ENST00000316623.9:c.6189G>A | ENSP00000325527.5:p.Ala2063= | |
| ENST00000537463.6:c.*1952G>A | ENSP00000440294.2:n.*1952G>A | |
| ENST00000559133.5:c.1496G>A | ||
| ENST00000560820.1:n.309G>A | ||
| NM_000138.4:c.6189G>A , LRG_778t1:c.6189G>A | NP_000129.3:p.Ala2063= | |
| NM_000138.5:c.6189G>A MANE Select | NP_000129.3:p.Ala2063= |