COSMIC:
COSN8868779 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38207613 (EAS)
Genomes Max Group AF
0.38232941 (EAS)
Exomes Max Group AF
0.38044675 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.17795162T>C , CM000683.2:g.17795162T>C | GRCh38 |
| NC_000021.8:g.19167479T>C , CM000683.1:g.19167479T>C | GRCh37 |
| NC_000021.7:g.18089350T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284881.9:c.727+46A>G MANE Select | ENSP00000284881.4:n.727+46A>G | |
| ENST00000284881.8:c.727+46A>G | ENSP00000284881.4:n.727+46A>G | |
| ENST00000400558.7:c.664+1420A>G | ENSP00000383403.3:n.664+1420A>G | |
| ENST00000400559.7:c.727+46A>G | ENSP00000383404.3:n.727+46A>G | |
| NM_001100420.1:c.727+46A>G | NP_001093890.1:n.727+46A>G | |
| NM_001100421.1:c.664+1420A>G | NP_001093891.1:n.664+1420A>G | |
| NM_017447.3:c.727+46A>G | NP_059143.3:n.727+46A>G | |
| NM_001100420.2:c.727+46A>G MANE Select | NP_001093890.1:n.727+46A>G | |
| NM_001100421.2:c.664+1420A>G | NP_001093891.1:n.664+1420A>G | |
| NM_017447.4:c.727+46A>G | NP_059143.3:n.727+46A>G |