COSMIC:
COSM4128431 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42204666 (MID)
Genomes Max Group AF
0.40104097 (NFE)
Exomes Max Group AF
0.42121451 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78618839T>C , CM000677.2:g.78618839T>C | GRCh38 |
| NC_000015.9:g.78911181T>C , CM000677.1:g.78911181T>C | GRCh37 |
| NC_000015.8:g.76698236T>C | NCBI36 |
| NG_016143.1:g.7457A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.159A>G MANE Select | ENSP00000315602.5:p.Val53= | |
| ENST00000326828.5:c.159A>G | ENSP00000315602.5:p.Val53= | |
| ENST00000348639.7:c.159A>G | ENSP00000267951.4:p.Val53= | |
| ENST00000559080.1:c.-43A>G | ENSP00000453993.1:n.-43A>G | |
| ENST00000559658.5:c.159A>G | ENSP00000452896.1:p.Val53= | |
| ENST00000561128.1:n.154A>G | ||
| NM_000743.4:c.159A>G | NP_000734.2:p.Val53= | |
| NM_001166694.1:c.159A>G | NP_001160166.1:p.Val53= | |
| NR_046313.1:n.660A>G | ||
| XM_006720382.1:c.-43A>G | XP_006720445.1:n.-43A>G | |
| XM_011521173.1:c.78A>G | XP_011519475.1:p.Val26= | |
| XM_006720382.3:c.-43A>G | XP_006720445.1:n.-43A>G | |
| NM_000743.5:c.159A>G MANE Select | NP_000734.2:p.Val53= | |
| NM_001166694.2:c.159A>G | NP_001160166.1:p.Val53= | |
| NR_046313.2:n.361A>G |