COSMIC:
COSN17151533 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14716567 (EAS)
Genomes Max Group AF
0.14716567 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112207597G>A , CM000674.2:g.112207597G>A | GRCh38 |
| NC_000012.11:g.112645401G>A , CM000674.1:g.112645401G>A | GRCh37 |
| NC_000012.10:g.111129784G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682272.1:c.8131+277C>T MANE Select | ENSP00000507687.1:n.8131+277C>T | |
| ENST00000651701.1:c.1157+277C>T | ||
| ENST00000377560.9:c.8125+277C>T | ENSP00000366783.7:n.8125+277C>T | |
| ENST00000550722.5:c.7729+277C>T | ENSP00000449784.2:n.7729+277C>T | |
| ENST00000550968.5:n.1365+277C>T | ||
| NM_001109662.3:c.7729+277C>T | NP_001103132.3:n.7729+277C>T | |
| NM_001109662.4:c.8161+277C>T | NP_001103132.4:n.8161+277C>T | |
| NM_001388303.1:c.8131+277C>T MANE Select | NP_001375232.1:n.8131+277C>T |