COSMIC:
COSM4986205 (not active)
Revel Score:
ENST00000378623 (MANE Select)
0.235
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61019029 (EAS)
Genomes Max Group AF
0.58588858 (EAS)
Exomes Max Group AF
0.61143384 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46875895G>A , CM000673.2:g.46875895G>A | GRCh38 |
| NC_000011.9:g.46897446G>A , CM000673.1:g.46897446G>A | GRCh37 |
| NC_000011.8:g.46854022G>A | NCBI36 |
| NG_021394.1:g.47728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.3608C>T MANE Select | ENSP00000367888.1:p.Ala1203Val | |
| ENST00000378623.5:c.3608C>T | ENSP00000367888.1:p.Ala1203Val | |
| NM_002334.3:c.3608C>T | NP_002325.2:p.Ala1203Val | |
| XM_011520102.1:c.3821C>T | XP_011518404.1:p.Ala1274Val | |
| XM_011520103.1:c.2804C>T | XP_011518405.1:p.Ala935Val | |
| XM_011520104.1:c.1373C>T | XP_011518406.1:p.Ala458Val | |
| XM_011520103.2:c.2804C>T | XP_011518405.1:p.Ala935Val | |
| XM_011520104.2:c.1373C>T | XP_011518406.1:p.Ala458Val | |
| XM_017017734.1:c.3608C>T | XP_016873223.1:p.Ala1203Val | |
| NM_002334.4:c.3608C>T MANE Select | NP_002325.2:p.Ala1203Val |