COSMIC:
COSN8810345
COSN8810346
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59651098 (MID)
Genomes Max Group AF
0.5315397 (NFE)
Exomes Max Group AF
0.59578745 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98187015C>T , CM000669.2:g.98187015C>T | GRCh38 |
| NC_000007.13:g.97816327C>T , CM000669.1:g.97816327C>T | GRCh37 |
| NC_000007.12:g.97654263C>T | NCBI36 |
| NG_013375.1:g.85131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.998+17C>T MANE Select | ENSP00000297293.5:n.998+17C>T | |
| ENST00000297293.5:c.998+17C>T | ENSP00000297293.5:n.998+17C>T | |
| NM_014916.3:c.998+17C>T | NP_055731.2:n.998+17C>T | |
| XM_011515981.1:c.992+17C>T | XP_011514283.1:n.992+17C>T | |
| XM_011515981.3:c.992+17C>T | XP_011514283.1:n.992+17C>T | |
| NM_014916.4:c.998+17C>T MANE Select | NP_055731.2:n.998+17C>T |