COSMIC:
COSM3759860 (not active)
Revel Score:
ENST00000264381 (MANE Select)
0.136
ENST00000479451
0.136
ENST00000540653
0.136
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21858234 (MID)
Genomes Max Group AF
0.19502057 (NFE)
Exomes Max Group AF
0.21972948 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165773492C>T , CM000665.2:g.165773492C>T | GRCh38 |
| NC_000003.11:g.165491280C>T , CM000665.1:g.165491280C>T | GRCh37 |
| NC_000003.10:g.166973974C>T | NCBI36 |
| NG_009031.1:g.68974G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1699G>A MANE Select | ENSP00000264381.3:p.Ala567Thr | |
| ENST00000264381.7:c.1699G>A | ENSP00000264381.3:p.Ala567Thr | |
| ENST00000479451.5:c.289G>A | ENSP00000418325.1:p.Ala97Thr | |
| ENST00000482958.1:c.*205G>A | ENSP00000419804.1:n.*205G>A | |
| ENST00000497011.5:c.*89G>A | ENSP00000419505.1:n.*89G>A | |
| NM_000055.2:c.1699G>A | NP_000046.1:p.Ala567Thr | |
| XM_005247685.1:c.1822G>A | XP_005247742.1:p.Ala608Thr | |
| NM_000055.3:c.1699G>A | NP_000046.1:p.Ala567Thr | |
| NR_137635.1:n.341G>A | ||
| NR_137636.1:n.1945G>A | ||
| NM_000055.4:c.1699G>A MANE Select | NP_000046.1:p.Ala567Thr | |
| NR_137635.2:n.292G>A | ||
| NR_137636.2:n.1896G>A |