COSMIC:
COSM6281437 (not active)
Revel Score:
ENST00000235332 (MANE Select)
0.049
ENST00000436478
0.049
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7797729 (AFR)
Genomes Max Group AF
0.77838997 (AFR)
Exomes Max Group AF
0.77658348 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12022869A>G , CM000663.2:g.12022869A>G | GRCh38 |
| NC_000001.10:g.12082926A>G , CM000663.1:g.12082926A>G | GRCh37 |
| NC_000001.9:g.12005513A>G | NCBI36 |
| NG_030022.1:g.8628A>G | |
| NG_030022.2:g.8628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235332.6:c.499A>G MANE Select | ENSP00000235332.4:p.Lys167Glu | |
| ENST00000235332.5:c.499A>G | ENSP00000235332.4:p.Lys167Glu | |
| ENST00000466860.5:n.258A>G | ||
| ENST00000478749.5:n.472A>G | ||
| ENST00000498685.5:n.6A>G | ||
| NM_021933.3:c.499A>G | NP_068752.2:p.Lys167Glu | |
| XM_005263487.2:c.499A>G | XP_005263544.1:p.Lys167Glu | |
| XM_011541895.1:c.499A>G | XP_011540197.1:p.Lys167Glu | |
| XM_011541896.1:c.499A>G | XP_011540198.1:p.Lys167Glu | |
| XM_005263487.4:c.499A>G | XP_005263544.1:p.Lys167Glu | |
| NM_021933.4:c.499A>G MANE Select | NP_068752.2:p.Lys167Glu |