COSMIC:
COSN18742327 (not active)
COSN18742485 (not active)
COSN18742645 (not active)
COSN18742806 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52637618 (NFE)
Genomes Max Group AF
0.5057275 (NFE)
Exomes Max Group AF
0.52741566 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48725015T>C , CM000681.2:g.48725015T>C | GRCh38 |
| NC_000019.9:g.49228272T>C , CM000681.1:g.49228272T>C | GRCh37 |
| NC_000019.8:g.53920084T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222145.9:c.2128-55A>G MANE Select | ENSP00000222145.3:n.2128-55A>G | |
| ENST00000222145.8:c.2128-55A>G | ENSP00000222145.3:n.2128-55A>G | |
| ENST00000599291.1:c.416-55A>G | ||
| ENST00000601530.1:n.567A>G | ||
| ENST00000621604.4:c.2125-55A>G | ENSP00000479419.1:n.2125-55A>G | |
| NM_017805.2:c.2128-55A>G | NP_060275.2:n.2128-55A>G | |
| XM_011527053.1:c.2128-55A>G | XP_011525355.1:n.2128-55A>G | |
| XM_011527054.1:c.2128-55A>G | XP_011525356.1:n.2128-55A>G | |
| XM_011527055.1:c.1834-55A>G | XP_011525357.1:n.1834-55A>G | |
| XR_935837.1:n.2321-55A>G | ||
| XM_011527053.2:c.2431-55A>G | XP_011525355.2:n.2431-55A>G | |
| XM_017026914.1:c.2431-55A>G | XP_016882403.1:n.2431-55A>G | |
| XM_017026915.1:c.2137-55A>G | XP_016882404.1:n.2137-55A>G | |
| XM_024451566.1:c.2431-55A>G | XP_024307334.1:n.2431-55A>G | |
| XM_024451567.1:c.2137-55A>G | XP_024307335.1:n.2137-55A>G | |
| XR_001753712.1:n.2341-55A>G | ||
| NM_017805.3:c.2128-55A>G MANE Select | NP_060275.2:n.2128-55A>G |