COSMIC:
COSN16210723 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39115474 (MID)
Genomes Max Group AF
0.3671396 (NFE)
Exomes Max Group AF
0.38080704 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70421416A>G , CM000663.2:g.70421416A>G | GRCh38 |
| NC_000001.10:g.70887099A>G , CM000663.1:g.70887099A>G | GRCh37 |
| NC_000001.9:g.70659687A>G | NCBI36 |
| NG_008041.1:g.15145A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370938.8:c.347-150A>G MANE Select | ENSP00000359976.3:n.347-150A>G | |
| ENST00000346806.2:c.347-150A>G | ENSP00000311554.2:n.347-150A>G | |
| ENST00000370938.7:c.347-150A>G | ENSP00000359976.3:n.347-150A>G | |
| ENST00000411986.6:c.251-150A>G | ENSP00000413407.2:n.251-150A>G | |
| ENST00000464926.1:n.395-150A>G | ||
| NM_001190463.1:c.251-150A>G | NP_001177392.1:n.251-150A>G | |
| NM_001902.5:c.347-150A>G | NP_001893.2:n.347-150A>G | |
| NM_153742.4:c.347-150A>G | NP_714964.2:n.347-150A>G | |
| XM_005270509.2:c.20-150A>G | XP_005270566.1:n.20-150A>G | |
| XM_005270509.3:c.20-150A>G | XP_005270566.1:n.20-150A>G | |
| NM_001902.6:c.347-150A>G MANE Select | NP_001893.2:n.347-150A>G | |
| NM_001190463.2:c.251-150A>G | NP_001177392.1:n.251-150A>G | |
| NM_153742.5:c.347-150A>G | NP_714964.2:n.347-150A>G |