COSMIC:
COSM4003999 (not active)
Revel Score:
ENST00000343139 (MANE Select)
0.049
ENST00000395364
0.049
ENST00000395363
0.049
ENST00000496318
0.049
ENST00000374949
0.049
ENST00000486548
0.221
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13863604 (EAS)
Genomes Max Group AF
0.03257126 (EAS)
Exomes Max Group AF
0.14731768 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32642188C>A , CM000668.2:g.32642188C>A | GRCh38 |
| NC_000006.11:g.32609965C>A , CM000668.1:g.32609965C>A | GRCh37 |
| NC_000006.10:g.32717943C>A | NCBI36 |
| NG_032876.1:g.9783C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343139.11:c.548C>A MANE Select | ENSP00000339398.5:p.Ala183Asp | |
| ENST00000343139.9:c.548C>A | ENSP00000339398.5:p.Ala183Asp | |
| ENST00000374949.2:c.548C>A | ENSP00000364087.2:p.Ala183Asp | |
| ENST00000395363.5:c.548C>A | ENSP00000378767.1:p.Ala183Asp | |
| ENST00000460633.1:n.576C>A | ||
| ENST00000482745.5:c.*1380C>A | ENSP00000436546.1:n.*1380C>A | |
| ENST00000496318.5:c.548C>A | ENSP00000437302.1:p.Ala183Asp | |
| NM_002122.3:c.548C>A | NP_002113.2:p.Ala183Asp | |
| XM_006715079.2:c.548C>A | XP_006715142.1:p.Ala183Asp | |
| XM_006715079.4:c.548C>A | XP_006715142.1:p.Ala183Asp | |
| XR_001744085.1:n.86+400G>T | ||
| NM_002122.5:c.548C>A MANE Select | NP_002113.2:p.Ala183Asp |