COSMIC:
COSM3735936 (not active)
COSM3735937 (not active)
Revel Score:
ENST00000368122 (MANE Select)
0.036
ENST00000537147
0.036
ENST00000359381
0.036
ENST00000435307
0.036
ENST00000368121
0.036
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92463299 (AFR)
Genomes Max Group AF
0.91556471 (AFR)
Exomes Max Group AF
0.93055142 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159205564G>A , CM000663.2:g.159205564G>A | GRCh38 |
| NC_000001.10:g.159175354G>A , CM000663.1:g.159175354G>A | GRCh37 |
| NC_000001.9:g.157441978G>A | NCBI36 |
| NG_011626.1:g.5845G>A | |
| NG_011626.3:g.6552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368121.6:c.131G>A | ENSP00000357103.2:p.Gly44Asp | |
| ENST00000368122.4:c.125G>A MANE Select | ENSP00000357104.1:p.Gly42Asp | |
| ENST00000435307.2:n.306G>A | ||
| ENST00000368121.3:c.131G>A | ENSP00000357103.2:p.Gly44Asp | |
| ENST00000368122.2:c.125G>A | ENSP00000357104.1:p.Gly42Asp | |
| ENST00000435307.1:c.131G>A | ENSP00000398406.1:p.Gly44Asp | |
| ENST00000537147.5:c.125G>A | ENSP00000441985.1:p.Gly42Asp | |
| NM_001122951.2:c.131G>A | NP_001116423.1:p.Gly44Asp | |
| NM_002036.3:c.125G>A | NP_002027.2:p.Gly42Asp | |
| NM_002036.4:c.125G>A MANE Select | NP_002027.2:p.Gly42Asp | |
| NM_001122951.3:c.131G>A | NP_001116423.1:p.Gly44Asp |