COSMIC:
COSN6620046 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42332198 (EAS)
Genomes Max Group AF
0.42332198 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24024245C>T , CM000675.2:g.24024245C>T | GRCh38 |
| NC_000013.10:g.24598384C>T , CM000675.1:g.24598384C>T | GRCh37 |
| NC_000013.9:g.23496384C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382141.4:c.-112+6544C>T | ENSP00000371576.4:n.-112+6544C>T | |
| ENST00000424834.6:c.-112+6544C>T | ENSP00000398560.2:n.-112+6544C>T | |
| NM_001286792.1:c.75+6544C>T | NP_001273721.1:n.75+6544C>T | |
| NR_104595.1:n.541+6544C>T | ||
| NM_001286792.2:c.75+6544C>T | NP_001273721.1:n.75+6544C>T | |
| NR_104595.2:n.365+6544C>T |