COSMIC:
COSM148621 (not active)
Revel Score:
ENST00000221804 (MANE Select)
0.010
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76903321 (AFR)
Genomes Max Group AF
0.76445308 (AFR)
Exomes Max Group AF
0.76984682 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39735006G>A , CM000681.2:g.39735006G>A | GRCh38 |
| NC_000019.9:g.40225646G>A , CM000681.1:g.40225646G>A | GRCh37 |
| NC_000019.8:g.44917486G>A | NCBI36 |
| NG_046978.1:g.8024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221804.5:c.83C>T MANE Select | ENSP00000221804.3:p.Ala28Val | |
| ENST00000221804.4:c.83C>T | ENSP00000221804.3:p.Ala28Val | |
| NM_001828.5:c.83C>T | NP_001819.2:p.Ala28Val | |
| NM_001828.6:c.83C>T MANE Select | NP_001819.2:p.Ala28Val |