COSMIC:
COSN15758640 (not active)
COSN16420702 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06856439 (AMR)
Genomes Max Group AF
0.08343905 (AMR)
Exomes Max Group AF
0.03720846 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.629994A>G , CM000663.2:g.629994A>G | GRCh38 |
| NC_000001.10:g.565374A>G , CM000663.1:g.565374A>G | GRCh37 |
| NC_000001.9:g.555237A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419394.2:n.481-43039T>C | ||
| ENST00000440196.3:n.87-988T>C | ||
| ENST00000440200.5:n.170-21938T>C | ||
| ENST00000452176.2:n.21-988T>C | ||
| ENST00000634337.2:n.161-21938T>C | ||
| ENST00000635509.2:n.313-28417T>C | ||
| ENST00000641296.1:n.75-988T>C | ||
| ENST00000648019.1:n.636-21938T>C | ||
| ENST00000457540.1:n.355A>G |