COSMIC:
COSN6611287
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17008891 (SAS)
Genomes Max Group AF
0.17410996 (SAS)
Exomes Max Group AF
0.1667478 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72721940G>A , CM000673.2:g.72721940G>A | GRCh38 |
| NC_000011.9:g.72432985G>A , CM000673.1:g.72432985G>A | GRCh37 |
| NC_000011.8:g.72110633G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.509+4680C>T MANE Select | ENSP00000377233.3:n.509+4680C>T | |
| ENST00000334211.12:c.-317C>T | ENSP00000335506.8:n.-317C>T | |
| ENST00000359373.9:c.509+4680C>T | ENSP00000352332.5:n.509+4680C>T | |
| ENST00000393609.7:c.509+4680C>T | ENSP00000377233.3:n.509+4680C>T | |
| ENST00000426523.5:c.-317C>T | ENSP00000392264.1:n.-317C>T | |
| ENST00000429686.5:c.-317C>T | ENSP00000403127.1:n.-317C>T | |
| ENST00000465814.5:n.149C>T | ||
| NM_001040118.2:c.509+4680C>T | NP_001035207.1:n.509+4680C>T | |
| NM_001135190.1:c.-317C>T | NP_001128662.1:n.-317C>T | |
| NM_015242.4:c.-317C>T | NP_056057.2:n.-317C>T | |
| NM_001369489.1:c.-317C>T | NP_001356418.1:n.-317C>T | |
| NR_161388.1:n.401C>T | ||
| NM_001040118.3:c.509+4680C>T MANE Select | NP_001035207.1:n.509+4680C>T | |
| NM_001135190.2:c.-317C>T | NP_001128662.1:n.-317C>T | |
| NM_015242.5:c.-317C>T | NP_056057.2:n.-317C>T |