gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008862 (EAS)
Genomes Max Group AF
0.00026303 (EAS)
Exomes Max Group AF
0.0000551 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57061724C>T , CM000678.2:g.57061724C>T | GRCh38 |
| NC_000016.9:g.57095636C>T , CM000678.1:g.57095636C>T | GRCh37 |
| NC_000016.8:g.55653137C>T | NCBI36 |
| NG_030337.1:g.49651C>T | |
| NG_030337.3:g.77240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688547.1:c.4154+23C>T MANE Select | ENSP00000509992.1:n.4154+23C>T | |
| ENST00000262510.10:c.4154+23C>T | ENSP00000262510.6:n.4154+23C>T | |
| ENST00000399221.3:c.408+23C>T | ||
| ENST00000436936.5:c.4154+23C>T | ENSP00000389739.2:n.4154+23C>T | |
| ENST00000535284.1:n.627C>T | ||
| ENST00000537056.5:c.972+23C>T | ||
| ENST00000538110.5:c.2582+23C>T | ENSP00000441597.1:n.2582+23C>T | |
| ENST00000538453.5:c.1607+23C>T | ENSP00000444773.1:n.1607+23C>T | |
| ENST00000538805.5:c.3408+23C>T | ||
| ENST00000538930.5:n.1292+23C>T | ||
| ENST00000539144.5:c.4067+23C>T | ENSP00000441727.1:n.4067+23C>T | |
| ENST00000540182.5:c.1159+23C>T | ||
| ENST00000543030.5:c.1787+23C>T | ENSP00000440153.1:n.1787+23C>T | |
| ENST00000543402.1:n.501+23C>T | ||
| ENST00000545081.5:c.3394+23C>T | ||
| NM_032206.4:c.4154+23C>T | NP_115582.4:n.4154+23C>T | |
| XM_005256193.1:c.4154+23C>T | XP_005256250.1:n.4154+23C>T | |
| XM_005256194.2:c.4154+23C>T | XP_005256251.1:n.4154+23C>T | |
| XM_005256195.1:c.4151+23C>T | XP_005256252.1:n.4151+23C>T | |
| XM_005256196.1:c.4070+23C>T | XP_005256253.1:n.4070+23C>T | |
| XM_005256197.1:c.4067+23C>T | XP_005256254.1:n.4067+23C>T | |
| XM_005256199.2:c.4151+23C>T | XP_005256256.1:n.4151+23C>T | |
| XM_005256201.2:c.4061+23C>T | XP_005256258.1:n.4061+23C>T | |
| XM_006721297.1:c.4154+23C>T | XP_006721360.1:n.4154+23C>T | |
| XM_006721298.1:c.4064+23C>T | XP_006721361.1:n.4064+23C>T | |
| XM_006721300.2:c.4154+23C>T | XP_006721363.1:n.4154+23C>T | |
| XM_011523373.1:c.4154+23C>T | XP_011521675.1:n.4154+23C>T | |
| XM_011523374.1:c.4154+23C>T | XP_011521676.1:n.4154+23C>T | |
| XM_011523375.1:c.4154+23C>T | XP_011521677.1:n.4154+23C>T | |
| XM_011523376.1:c.2018+23C>T | XP_011521678.1:n.2018+23C>T | |
| XR_429733.1:n.4436+23C>T | ||
| XR_429734.1:n.4400+23C>T | ||
| XR_933458.1:n.4342+23C>T | ||
| NM_001330552.1:c.4067+23C>T | NP_001317481.1:n.4067+23C>T | |
| XM_005256193.2:c.4154+23C>T | XP_005256250.1:n.4154+23C>T | |
| XM_005256194.4:c.4154+23C>T | XP_005256251.1:n.4154+23C>T | |
| XM_005256195.2:c.4151+23C>T | XP_005256252.1:n.4151+23C>T | |
| XM_005256196.2:c.4070+23C>T | XP_005256253.1:n.4070+23C>T | |
| XM_005256197.2:c.4067+23C>T | XP_005256254.1:n.4067+23C>T | |
| XM_005256199.3:c.4151+23C>T | XP_005256256.1:n.4151+23C>T | |
| XM_005256201.3:c.4061+23C>T | XP_005256258.1:n.4061+23C>T | |
| XM_006721297.2:c.4154+23C>T | XP_006721360.1:n.4154+23C>T | |
| XM_006721298.2:c.4064+23C>T | XP_006721361.1:n.4064+23C>T | |
| XM_011523373.2:c.4154+23C>T | XP_011521675.1:n.4154+23C>T | |
| XM_011523375.3:c.4154+23C>T | XP_011521677.1:n.4154+23C>T | |
| XM_011523376.2:c.2018+23C>T | XP_011521678.1:n.2018+23C>T | |
| XM_017023769.1:c.4154+23C>T | XP_016879258.1:n.4154+23C>T | |
| XM_017023770.1:c.4154+23C>T | XP_016879259.1:n.4154+23C>T | |
| XM_017023771.2:c.4151+23C>T | XP_016879260.1:n.4151+23C>T | |
| XR_001751997.1:n.4342+23C>T | ||
| XR_001751998.1:n.4339+23C>T | ||
| XR_001751999.1:n.4255+23C>T | ||
| XR_001752000.1:n.4400+23C>T | ||
| XR_429734.2:n.4400+23C>T | ||
| NM_001330552.2:c.4067+23C>T | NP_001317481.1:n.4067+23C>T | |
| NM_001384950.1:c.4154+23C>T MANE Select | NP_001371879.1:n.4154+23C>T | |
| NM_001384951.1:c.4067+23C>T | NP_001371880.1:n.4067+23C>T | |
| NM_001384952.1:c.4151+23C>T | NP_001371881.1:n.4151+23C>T | |
| NM_001384953.1:c.4151+23C>T | NP_001371882.1:n.4151+23C>T | |
| NM_001384954.1:c.4070+23C>T | NP_001371883.1:n.4070+23C>T | |
| NM_001384955.1:c.4154+23C>T | NP_001371884.1:n.4154+23C>T | |
| NM_001384956.1:c.4067+23C>T | NP_001371885.1:n.4067+23C>T | |
| NM_001384957.1:c.4151+23C>T | NP_001371886.1:n.4151+23C>T | |
| NM_001384958.1:c.3980+23C>T | NP_001371887.1:n.3980+23C>T | |
| NM_001384959.1:c.3977+23C>T | NP_001371888.1:n.3977+23C>T | |
| NM_001384960.1:c.3977+23C>T | NP_001371889.1:n.3977+23C>T | |
| NM_001384961.1:c.4154+23C>T | NP_001371890.1:n.4154+23C>T | |
| NM_001384962.1:c.4154+23C>T | NP_001371891.1:n.4154+23C>T | |
| NM_001384963.1:c.4151+23C>T | NP_001371892.1:n.4151+23C>T | |
| NM_001384964.1:c.4151+23C>T | NP_001371893.1:n.4151+23C>T | |
| NM_001384965.1:c.4070+23C>T | NP_001371894.1:n.4070+23C>T | |
| NM_001384966.1:c.4067+23C>T | NP_001371895.1:n.4067+23C>T | |
| NM_001384967.1:c.4064+23C>T | NP_001371896.1:n.4064+23C>T | |
| NM_001384968.1:c.4061+23C>T | NP_001371897.1:n.4061+23C>T | |
| NM_001384969.1:c.4154+23C>T | NP_001371898.1:n.4154+23C>T | |
| NM_001384970.1:c.4151+23C>T | NP_001371899.1:n.4151+23C>T | |
| NM_001384971.1:c.4067+23C>T | NP_001371900.1:n.4067+23C>T | |
| NM_001384972.1:c.3827+23C>T | NP_001371901.1:n.3827+23C>T | |
| NM_032206.5:c.4154+23C>T | NP_115582.4:n.4154+23C>T | |
| NR_169512.1:n.4281+23C>T | ||
| NR_169513.1:n.4273+23C>T | ||
| NR_169514.1:n.4231+23C>T | ||
| NR_169515.1:n.4241+23C>T | ||
| NR_169516.1:n.4270+23C>T | ||
| NR_169517.1:n.4397+23C>T | ||
| NR_169518.1:n.4379+23C>T | ||
| NR_169519.1:n.4610+23C>T | ||
| NR_169520.1:n.4303+23C>T |