COSMIC:
COSN6691917 (not active)
COSN19616633 (not active)
COSN19650562 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6396842 (EAS)
Genomes Max Group AF
0.65438605 (EAS)
Exomes Max Group AF
0.63575693 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20140031A>G , CM000684.2:g.20140031A>G | GRCh38 |
| NC_000022.10:g.20127554A>G , CM000684.1:g.20127554A>G | GRCh37 |
| NC_000022.9:g.18507554A>G | NCBI36 |
| NG_021420.1:g.13191A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334554.12:c.558-84A>G MANE Select | ENSP00000334490.7:n.558-84A>G | |
| ENST00000320602.11:c.384+396A>G | ENSP00000317804.7:n.384+396A>G | |
| ENST00000334554.11:c.558-84A>G | ENSP00000334490.7:n.558-84A>G | |
| ENST00000405930.3:c.558-84A>G | ENSP00000384716.3:n.558-84A>G | |
| ENST00000468112.5:n.58-586A>G | ||
| ENST00000469212.5:n.95A>G | ||
| NM_001185024.1:c.558-84A>G | NP_001171953.1:n.558-84A>G | |
| NM_013373.3:c.558-84A>G | NP_037505.1:n.558-84A>G | |
| XM_006724239.2:c.558-84A>G | XP_006724302.1:n.558-84A>G | |
| NM_001185024.2:c.558-84A>G | NP_001171953.1:n.558-84A>G | |
| NM_013373.4:c.558-84A>G MANE Select | NP_037505.1:n.558-84A>G |