COSMIC:
COSN19669674 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49738154 (EAS)
Genomes Max Group AF
0.43601022 (EAS)
Exomes Max Group AF
0.50364751 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14989008C>T , CM000678.2:g.14989008C>T | GRCh38 |
| NC_000016.9:g.15082865C>T , CM000678.1:g.15082865C>T | GRCh37 |
| NC_000016.8:g.14990366C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396410.9:c.22-8745C>T MANE Select | ENSP00000379691.4:n.22-8745C>T | |
| ENST00000325823.11:c.22-8745C>T | ENSP00000322807.8:n.22-8745C>T | |
| ENST00000396410.8:c.22-8745C>T | ENSP00000379691.4:n.22-8745C>T | |
| ENST00000455313.6:c.22-8745C>T | ENSP00000406703.2:n.22-8745C>T | |
| ENST00000535621.6:c.22-8745C>T | ENSP00000437835.2:n.22-8745C>T | |
| ENST00000562119.5:c.22-8745C>T | ENSP00000455486.1:n.22-8745C>T | |
| ENST00000563522.5:c.-24-8745C>T | ENSP00000457417.1:n.-24-8745C>T | |
| ENST00000563667.5:c.156-8745C>T | ||
| ENST00000563679.5:c.76-8745C>T | ENSP00000454791.1:n.76-8745C>T | |
| ENST00000565362.5:c.22-8745C>T | ENSP00000454279.1:n.22-8745C>T | |
| ENST00000566426.1:c.-20-8749C>T | ENSP00000455914.1:n.-20-8749C>T | |
| ENST00000567306.5:c.-24-8745C>T | ENSP00000454910.1:n.-24-8745C>T | |
| ENST00000567634.1:n.1153G>A | ||
| ENST00000569715.5:c.22-8745C>T | ENSP00000455070.1:n.22-8745C>T | |
| ENST00000570001.5:n.117-8745C>T | ||
| ENST00000627450.2:c.22-8745C>T | ENSP00000486662.1:n.22-8745C>T | |
| NM_001285444.1:c.22-8745C>T | NP_001272373.1:n.22-8745C>T | |
| NM_001285445.1:c.22-8745C>T | NP_001272374.1:n.22-8745C>T | |
| NM_001285447.1:c.-24-8745C>T | NP_001272376.1:n.-24-8745C>T | |
| NM_001285448.1:c.-25+4350C>T | NP_001272377.1:n.-25+4350C>T | |
| NM_001285449.1:c.22-8745C>T | NP_001272378.1:n.22-8745C>T | |
| NM_001285450.1:c.22-8745C>T | NP_001272379.1:n.22-8745C>T | |
| NM_015027.3:c.22-8745C>T | NP_055842.2:n.22-8745C>T | |
| XM_005255173.1:c.76-8745C>T | XP_005255230.1:n.76-8745C>T | |
| XM_005255176.2:c.-25+4350C>T | XP_005255233.1:n.-25+4350C>T | |
| XM_006720865.2:c.-24-8745C>T | XP_006720928.2:n.-24-8745C>T | |
| XM_011522428.1:c.76-8745C>T | XP_011520730.1:n.76-8745C>T | |
| NM_001324019.1:c.22-8745C>T | NP_001310948.1:n.22-8745C>T | |
| NM_001324020.1:c.22-8745C>T | NP_001310949.1:n.22-8745C>T | |
| NM_001324021.1:c.22-8745C>T | NP_001310950.1:n.22-8745C>T | |
| XM_005255176.3:c.-25+4350C>T | XP_005255233.1:n.-25+4350C>T | |
| XM_017023059.1:c.-24-8745C>T | XP_016878548.1:n.-24-8745C>T | |
| XM_017023060.1:c.49-8745C>T | XP_016878549.1:n.49-8745C>T | |
| XM_017023061.2:c.-25+8035C>T | XP_016878550.1:n.-25+8035C>T | |
| XM_017023062.1:c.-24-8745C>T | XP_016878551.1:n.-24-8745C>T | |
| XM_017023063.1:c.-24-8745C>T | XP_016878552.1:n.-24-8745C>T | |
| XM_017023064.1:c.-24-8745C>T | XP_016878553.1:n.-24-8745C>T | |
| XM_017023065.1:c.-24-8745C>T | XP_016878554.1:n.-24-8745C>T | |
| XM_024450194.1:c.-24-8745C>T | XP_024305962.1:n.-24-8745C>T | |
| XM_024450195.1:c.76-8745C>T | XP_024305963.1:n.76-8745C>T | |
| XM_024450196.1:c.49-8745C>T | XP_024305964.1:n.49-8745C>T | |
| XM_024450197.1:c.-25+4350C>T | XP_024305965.1:n.-25+4350C>T | |
| NM_001285444.2:c.22-8745C>T | NP_001272373.1:n.22-8745C>T | |
| NM_001285445.2:c.22-8745C>T | NP_001272374.1:n.22-8745C>T | |
| NM_001285450.2:c.22-8745C>T | NP_001272379.1:n.22-8745C>T | |
| NM_001324019.2:c.22-8745C>T | NP_001310948.1:n.22-8745C>T | |
| NM_015027.4:c.22-8745C>T MANE Select | NP_055842.2:n.22-8745C>T | |
| NM_001285449.2:c.22-8745C>T | NP_001272378.1:n.22-8745C>T | |
| NM_001324020.2:c.22-8745C>T | NP_001310949.1:n.22-8745C>T | |
| NM_001324021.2:c.22-8745C>T | NP_001310950.1:n.22-8745C>T |