COSMIC:
COSN24339800 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43098436 (MID)
Genomes Max Group AF
0.38204623 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121118845G>A , CM000669.2:g.121118845G>A | GRCh38 |
| NC_000007.13:g.120758899G>A , CM000669.1:g.120758899G>A | GRCh37 |
| NC_000007.12:g.120546135G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310396.10:c.919-5486G>A MANE Select | ENSP00000309772.5:n.919-5486G>A | |
| ENST00000310396.9:c.919-5486G>A | ENSP00000309772.5:n.919-5486G>A | |
| ENST00000423795.5:c.259-5486G>A | ENSP00000415573.1:n.259-5486G>A | |
| ENST00000428526.5:c.919-5486G>A | ENSP00000398082.1:n.919-5486G>A | |
| ENST00000443817.1:c.259-5486G>A | ENSP00000391952.1:n.259-5486G>A | |
| ENST00000450913.6:c.919-5486G>A | ENSP00000406122.2:n.919-5486G>A | |
| NM_001105533.1:c.919-5486G>A | NP_001099003.1:n.919-5486G>A | |
| NM_024913.4:c.919-5486G>A | NP_079189.4:n.919-5486G>A | |
| XM_011516583.1:c.919-5486G>A | XP_011514885.1:n.919-5486G>A | |
| XM_017012649.2:c.919-5486G>A | XP_016868138.1:n.919-5486G>A | |
| XM_024446941.1:c.406-5486G>A | XP_024302709.1:n.406-5486G>A | |
| NM_024913.5:c.919-5486G>A MANE Select | NP_079189.4:n.919-5486G>A |