COSMIC:
COSN19696420 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40100535 (AFR)
Genomes Max Group AF
0.39876618 (AFR)
Exomes Max Group AF
0.40119669 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64227364T>C , CM000676.2:g.64227364T>C | GRCh38 |
| NC_000014.8:g.64694082T>C , CM000676.1:g.64694082T>C | GRCh37 |
| NC_000014.7:g.63763835T>C | NCBI36 |
| NG_011535.1:g.116187A>G | |
| NG_011756.1:g.379400T>C | |
| NG_011756.2:g.470466T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353772.7:c.*169A>G | ENSP00000335551.4:n.*169A>G | |
| ENST00000554572.5:c.*169A>G | ENSP00000450699.1:n.*169A>G | |
| ENST00000556275.5:c.1406+7606A>G | ENSP00000452485.2:n.1406+7606A>G | |
| NM_001040275.1:c.*169A>G | NP_001035365.1:n.*169A>G | |
| NM_001214902.1:c.*526A>G | NP_001201831.1:n.*526A>G | |
| NM_001291712.1:c.*169A>G | NP_001278641.1:n.*169A>G | |
| NM_001291723.1:c.*169A>G | NP_001278652.1:n.*169A>G | |
| NR_073496.1:n.2261A>G | ||
| XM_011536545.1:c.1406+7606A>G | XP_011534847.1:n.1406+7606A>G | |
| XR_001750187.1:n.2093A>G | ||
| NM_001291712.2:c.*169A>G | NP_001278641.1:n.*169A>G | |
| NR_073496.2:n.2324A>G |