COSMIC:
COSN6688501 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45627248 (EAS)
Genomes Max Group AF
0.45368571 (EAS)
Exomes Max Group AF
0.45428112 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63356709G>A , CM000682.2:g.63356709G>A | GRCh38 |
| NC_000020.10:g.61988061G>A , CM000682.1:g.61988061G>A | GRCh37 |
| NC_000020.9:g.61458505G>A | NCBI36 |
| NG_011931.1:g.9635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.229-294C>T MANE Select | ENSP00000359285.4:n.229-294C>T | |
| ENST00000636481.1:n.37-171C>T | ||
| ENST00000636726.1:n.34-105C>T | ||
| ENST00000675470.1:c.229-294C>T | ENSP00000502096.1:n.229-294C>T | |
| ENST00000370263.8:c.229-294C>T | ENSP00000359285.4:n.229-294C>T | |
| ENST00000463705.5:n.1032-5682C>T | ||
| ENST00000467563.3:n.281-294C>T | ||
| ENST00000498043.6:c.153-294C>T | ||
| ENST00000615287.4:c.-85-294C>T | ENSP00000483388.1:n.-85-294C>T | |
| ENST00000627000.1:c.229-294C>T | ENSP00000486914.1:n.229-294C>T | |
| ENST00000628665.1:n.254-294C>T | ||
| NM_000744.6:c.229-294C>T | NP_000735.1:n.229-294C>T | |
| NM_001256573.1:c.-318-294C>T | NP_001243502.1:n.-318-294C>T | |
| NR_046317.1:n.460-294C>T | ||
| XM_017027625.2:c.-318-294C>T | XP_016883114.1:n.-318-294C>T | |
| NM_001256573.2:c.-318-294C>T | NP_001243502.1:n.-318-294C>T | |
| NR_046317.2:n.413-294C>T | ||
| NM_000744.7:c.229-294C>T MANE Select | NP_000735.1:n.229-294C>T |