COSMIC:
COSN6468627 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41521898 (AMR)
Genomes Max Group AF
0.41521898 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77582646T>C , CM000663.2:g.77582646T>C | GRCh38 |
| NC_000001.10:g.78048331T>C , CM000663.1:g.78048331T>C | GRCh37 |
| NC_000001.9:g.77820919T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370801.8:c.1645-520A>G MANE Select | ENSP00000359837.3:n.1645-520A>G | |
| ENST00000370798.5:c.163-520A>G | ENSP00000359834.1:n.163-520A>G | |
| ENST00000370801.7:c.1645-520A>G | ENSP00000359837.3:n.1645-520A>G | |
| ENST00000474746.1:n.354-520A>G | ||
| ENST00000476195.5:n.417-520A>G | ||
| ENST00000476275.5:n.1167-520A>G | ||
| ENST00000481346.5:n.212-520A>G | ||
| NM_001308237.1:c.163-520A>G | NP_001295166.1:n.163-520A>G | |
| NM_015534.4:c.1645-520A>G | NP_056349.1:n.1645-520A>G | |
| NM_015534.5:c.1645-520A>G | NP_056349.1:n.1645-520A>G | |
| XM_005270725.2:c.1645-520A>G | XP_005270782.1:n.1645-520A>G | |
| XM_005270726.2:c.1645-520A>G | XP_005270783.1:n.1645-520A>G | |
| XM_005270727.2:c.1645-520A>G | XP_005270784.1:n.1645-520A>G | |
| XM_005270729.3:c.163-520A>G | XP_005270786.1:n.163-520A>G | |
| XM_005270725.3:c.1645-520A>G | XP_005270782.1:n.1645-520A>G | |
| XM_005270726.3:c.1645-520A>G | XP_005270783.1:n.1645-520A>G | |
| XM_005270727.4:c.1645-520A>G | XP_005270784.1:n.1645-520A>G | |
| XM_005270729.4:c.163-520A>G | XP_005270786.1:n.163-520A>G | |
| XM_017000970.2:c.1645-520A>G | XP_016856459.1:n.1645-520A>G | |
| XM_017000972.1:c.163-520A>G | XP_016856461.1:n.163-520A>G | |
| XM_024446298.1:c.163-520A>G | XP_024302066.1:n.163-520A>G | |
| XR_001737103.1:n.2259-520A>G | ||
| XR_001737104.1:n.2211-520A>G | ||
| NM_015534.6:c.1645-520A>G MANE Select | NP_056349.1:n.1645-520A>G | |
| NM_001376146.1:c.1645-520A>G | NP_001363075.1:n.1645-520A>G | |
| NM_001376147.1:c.1645-520A>G | NP_001363076.1:n.1645-520A>G | |
| NM_001376148.1:c.1645-520A>G | NP_001363077.1:n.1645-520A>G | |
| NM_001376149.1:c.1645-520A>G | NP_001363078.1:n.1645-520A>G | |
| NM_001376151.1:c.1645-520A>G | NP_001363080.1:n.1645-520A>G | |
| NM_001376153.1:c.1645-520A>G | NP_001363082.1:n.1645-520A>G | |
| NM_001376154.1:c.1645-520A>G | NP_001363083.1:n.1645-520A>G | |
| NM_001376155.1:c.163-520A>G | NP_001363084.1:n.163-520A>G | |
| NM_001376156.1:c.163-520A>G | NP_001363085.1:n.163-520A>G | |
| NR_164775.1:n.2199-520A>G | ||
| NR_164776.1:n.2136-520A>G | ||
| NR_164777.1:n.2136-520A>G | ||
| NM_001308237.2:c.163-520A>G | NP_001295166.1:n.163-520A>G |