COSMIC:
COSM3736483 (not active)
Revel Score:
ENST00000450095
0.382
ENST00000378842 (MANE Select)
0.382
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17739962 (SAS)
Genomes Max Group AF
0.16342849 (SAS)
Exomes Max Group AF
0.17769836 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649445A>G , CM000671.2:g.34649445A>G | GRCh38 |
| NC_000009.11:g.34649442A>G , CM000671.1:g.34649442A>G | GRCh37 |
| NC_000009.10:g.34639442A>G | NCBI36 |
| NG_009029.1:g.7808A>G | |
| NG_028966.1:g.2261A>G | |
| NG_009029.2:g.7857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*528A>G | ENSP00000509954.1:n.*528A>G | |
| ENST00000378842.8:c.940A>G MANE Select | ENSP00000368119.4:p.Asn314Asp | |
| ENST00000378842.7:c.940A>G | ENSP00000368119.3:p.Asn314Asp | |
| ENST00000450095.6:c.613A>G | ENSP00000401956.2:p.Asn205Asp | |
| ENST00000488412.2:n.524A>G | ||
| ENST00000489643.6:n.1348A>G | ||
| ENST00000554550.5:c.*560A>G | ENSP00000451435.1:n.*560A>G | |
| ENST00000554638.5:n.1412A>G | ||
| ENST00000555020.5:n.1729A>G | ||
| ENST00000555754.1:n.388A>G | ||
| ENST00000556278.1:c.432+989A>G | ENSP00000451792.1:n.432+989A>G | |
| ENST00000557706.5:n.1515A>G | ||
| NM_000155.3:c.940A>G | NP_000146.2:p.Asn314Asp | |
| NM_001258332.1:c.613A>G | NP_001245261.1:p.Asn205Asp | |
| NM_000155.4:c.940A>G MANE Select | NP_000146.2:p.Asn314Asp | |
| NM_001258332.2:c.613A>G | NP_001245261.1:p.Asn205Asp |