COSMIC:
COSM4157156 (not active)
Revel Score:
ENST00000319172 (MANE Select)
0.104
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1624396 (NFE)
Genomes Max Group AF
0.15872259 (NFE)
Exomes Max Group AF
0.16253277 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119431989C>T , CM000665.2:g.119431989C>T | GRCh38 |
| NC_000003.11:g.119150836C>T , CM000665.1:g.119150836C>T | GRCh37 |
| NC_000003.10:g.120633526C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319172.10:c.1459G>A MANE Select | ENSP00000326063.5:p.Ala487Thr | |
| ENST00000319172.9:c.1459G>A | ENSP00000326063.5:p.Ala487Thr | |
| ENST00000438581.6:c.*1127G>A | ENSP00000402149.2:n.*1127G>A | |
| ENST00000473684.5:c.554G>A | ENSP00000420432.1:n.554G>A | |
| NM_018266.2:c.1459G>A | NP_060736.1:p.Ala487Thr | |
| NR_073506.1:n.1989G>A | ||
| XM_005247578.1:c.*204G>A | XP_005247635.1:n.*204G>A | |
| XM_006713687.1:c.1459G>A | XP_006713750.1:p.Ala487Thr | |
| XM_005247578.2:c.*204G>A | XP_005247635.1:n.*204G>A | |
| XM_006713687.2:c.1459G>A | XP_006713750.1:p.Ala487Thr | |
| XM_017006788.2:c.1375G>A | XP_016862277.1:p.Ala459Thr | |
| XR_001740197.2:n.2011G>A | ||
| XR_001740198.2:n.1927G>A | ||
| NM_018266.3:c.1459G>A MANE Select | NP_060736.1:p.Ala487Thr | |
| NR_073506.2:n.1922G>A |