COSMIC:
COSN17427476 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54302405 (SAS)
Genomes Max Group AF
0.54302405 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196733680C>T , CM000663.2:g.196733680C>T | GRCh38 |
| NC_000001.10:g.196702810C>T , CM000663.1:g.196702810C>T | GRCh37 |
| NC_000001.9:g.194969433C>T | NCBI36 |
| NG_007259.1:g.86670C>T , LRG_47:g.86670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.2680-3144C>T | ||
| ENST00000695969.1:c.2414-3144C>T | ENSP00000512296.1:n.2414-3144C>T | |
| ENST00000695970.1:c.2414-3144C>T | ENSP00000512297.1:n.2414-3144C>T | |
| ENST00000695971.1:c.2393-3144C>T | ENSP00000512298.1:n.2393-3144C>T | |
| ENST00000695972.1:c.2232+6744C>T | ENSP00000512299.1:n.2232+6744C>T | |
| ENST00000695973.1:c.*778-3144C>T | ENSP00000512300.1:n.*778-3144C>T | |
| ENST00000695974.1:c.2237-3144C>T | ENSP00000512301.1:n.2237-3144C>T | |
| ENST00000695975.1:c.*541-3144C>T | ENSP00000512302.1:n.*541-3144C>T | |
| ENST00000695976.1:c.2225-3144C>T | ENSP00000512303.1:n.2225-3144C>T | |
| ENST00000695981.1:c.2414-3144C>T | ENSP00000512306.1:n.2414-3144C>T | |
| ENST00000695983.1:c.2414-3144C>T | ENSP00000512308.1:n.2414-3144C>T | |
| ENST00000695984.1:c.422-3144C>T | ENSP00000512309.1:n.422-3144C>T | |
| ENST00000695986.1:c.*2065-3144C>T | ENSP00000512311.1:n.*2065-3144C>T | |
| ENST00000696025.1:n.2498-3144C>T | ||
| ENST00000696026.1:c.*696-3144C>T | ENSP00000512335.1:n.*696-3144C>T | |
| ENST00000696027.1:c.2408-3144C>T | ENSP00000512336.1:n.2408-3144C>T | |
| ENST00000696028.1:c.2414-3144C>T | ENSP00000512337.1:n.2414-3144C>T | |
| ENST00000696029.1:c.2414-3144C>T | ENSP00000512338.1:n.2414-3144C>T | |
| ENST00000696031.1:c.*1932-3144C>T | ENSP00000512340.1:n.*1932-3144C>T | |
| ENST00000696032.1:c.2414-3144C>T | ENSP00000512341.1:n.2414-3144C>T | |
| ENST00000696033.1:c.1159+44066C>T | ENSP00000512342.1:n.1159+44066C>T | |
| ENST00000367429.9:c.2414-3144C>T MANE Select | ENSP00000356399.4:n.2414-3144C>T | |
| ENST00000367429.8:c.2414-3144C>T | ENSP00000356399.4:n.2414-3144C>T | |
| ENST00000466229.5:n.4430-3144C>T | ||
| NM_000186.3:c.2414-3144C>T , LRG_47t1:c.2414-3144C>T | NP_000177.2:n.2414-3144C>T | |
| XR_001737134.2:n.2600-3144C>T | ||
| NM_000186.4:c.2414-3144C>T MANE Select | NP_000177.2:n.2414-3144C>T |