COSMIC:
COSN19768125 (not active)
COSN20053098 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28289807 (EAS)
Genomes Max Group AF
0.2912558 (EAS)
Exomes Max Group AF
0.28035179 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74006029G>A , CM000673.2:g.74006029G>A | GRCh38 |
| NC_000011.9:g.73717074G>A , CM000673.1:g.73717074G>A | GRCh37 |
| NC_000011.8:g.73394722G>A | NCBI36 |
| NG_011515.1:g.8209C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314032.9:c.338-96C>T MANE Select | ENSP00000323740.4:n.338-96C>T | |
| ENST00000314032.8:c.338-96C>T | ENSP00000323740.4:n.338-96C>T | |
| ENST00000426995.2:c.338-96C>T | ENSP00000392143.2:n.338-96C>T | |
| NM_003356.3:c.338-96C>T | NP_003347.1:n.338-96C>T | |
| NM_022803.2:c.338-96C>T | NP_073714.1:n.338-96C>T | |
| XR_950298.1:n.1768+9995G>A | ||
| NM_003356.4:c.338-96C>T MANE Select | NP_003347.1:n.338-96C>T | |
| NM_022803.3:c.338-96C>T | NP_073714.1:n.338-96C>T |