COSMIC:
COSN6614605
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55575673 (AMR)
Genomes Max Group AF
0.55561723 (AMR)
Exomes Max Group AF
0.40526743 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981909C>A , CM000674.2:g.13981909C>A | GRCh38 |
| NC_000012.11:g.14134843C>A , CM000674.1:g.14134843C>A | GRCh37 |
| NC_000012.10:g.14026110C>A | NCBI36 |
| NG_031854.1:g.3180G>T | |
| NG_031854.2:g.5104G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000630791.2:c.-683+7G>T | ENSP00000486677.2:n.-683+7G>T | |
| ENST00000627535.2:c.-448+7G>T | ENSP00000486411.1:n.-448+7G>T | |
| ENST00000630791.1:c.-683+7G>T | ENSP00000486677.1:n.-683+7G>T | |
| XM_011520629.1:c.-683+7G>T | XP_011518931.1:n.-683+7G>T | |
| XM_011520629.2:c.-683+7G>T | XP_011518931.1:n.-683+7G>T |