gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62908859 (NFE)
Genomes Max Group AF
0.62908859 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.50730631C>T , CM000667.2:g.50730631C>T | GRCh38 |
| NC_000005.9:g.50026465C>T , CM000667.1:g.50026465C>T | GRCh37 |
| NC_000005.8:g.50062222C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281631.10:c.147-19520C>T MANE Select | ENSP00000281631.4:n.147-19520C>T | |
| ENST00000515175.6:c.270-47438C>T | ENSP00000423133.2:n.270-47438C>T | |
| ENST00000281631.9:c.147-19520C>T | ENSP00000281631.4:n.147-19520C>T | |
| ENST00000502524.5:c.147-19520C>T | ENSP00000426243.1:n.147-19520C>T | |
| ENST00000503046.5:c.147-19520C>T | ENSP00000421708.1:n.147-19520C>T | |
| ENST00000503193.5:c.92-19520C>T | ENSP00000424916.1:n.92-19520C>T | |
| ENST00000503561.7:n.234-19520C>T | ||
| ENST00000503665.5:c.147-14105C>T | ENSP00000427138.1:n.147-14105C>T | |
| ENST00000503707.6:c.147-19520C>T | ENSP00000426679.2:n.147-19520C>T | |
| ENST00000503750.3:c.-524-19520C>T | ENSP00000440851.2:n.-524-19520C>T | |
| ENST00000503790.6:n.329-19520C>T | ||
| ENST00000503888.5:c.92-19520C>T | ENSP00000421503.1:n.92-19520C>T | |
| ENST00000505180.5:n.243-19520C>T | ||
| ENST00000505554.5:c.84-19520C>T | ENSP00000423946.1:n.84-19520C>T | |
| ENST00000505697.6:c.147-19520C>T | ENSP00000422217.2:n.147-19520C>T | |
| ENST00000507812.5:c.147-29012C>T | ENSP00000422183.1:n.147-29012C>T | |
| ENST00000510303.6:c.147-19520C>T | ENSP00000422288.2:n.147-19520C>T | |
| ENST00000511363.6:n.329-19520C>T | ||
| ENST00000513738.5:c.147-8349C>T | ENSP00000422355.1:n.147-8349C>T | |
| ENST00000514067.6:c.147-19520C>T | ENSP00000424814.2:n.147-19520C>T | |
| ENST00000514342.6:c.-595-19520C>T | ENSP00000439022.1:n.-595-19520C>T | |
| ENST00000515166.5:c.147-19520C>T | ENSP00000424485.1:n.147-19520C>T | |
| ENST00000515175.5:c.147-47438C>T | ENSP00000423133.1:n.147-47438C>T | |
| NM_001178055.1:c.147-19520C>T | NP_001171526.1:n.147-19520C>T | |
| NM_001178056.1:c.147-19520C>T | NP_001171527.1:n.147-19520C>T | |
| NM_024615.3:c.147-19520C>T | NP_078891.2:n.147-19520C>T | |
| XM_005248596.3:c.270-19520C>T | XP_005248653.1:n.270-19520C>T | |
| XM_011543631.1:c.147-19520C>T | XP_011541933.1:n.147-19520C>T | |
| XM_011543632.1:c.270-19520C>T | XP_011541934.1:n.270-19520C>T | |
| XM_011543633.1:c.270-19520C>T | XP_011541935.1:n.270-19520C>T | |
| XM_011543634.1:c.-572-14105C>T | XP_011541936.1:n.-572-14105C>T | |
| XM_011543635.1:c.-131-19520C>T | XP_011541937.1:n.-131-19520C>T | |
| XM_011543636.1:c.-131-19520C>T | XP_011541938.1:n.-131-19520C>T | |
| XM_011543637.1:c.-131-19520C>T | XP_011541939.1:n.-131-19520C>T | |
| XM_011543638.1:c.270-19520C>T | XP_011541940.1:n.270-19520C>T | |
| XM_011543639.1:c.270-19520C>T | XP_011541941.1:n.270-19520C>T | |
| XM_011543640.1:c.-284-19520C>T | XP_011541942.1:n.-284-19520C>T | |
| XM_011543641.1:c.-284-19520C>T | XP_011541943.1:n.-284-19520C>T | |
| XM_011543642.1:c.-213-19520C>T | XP_011541944.1:n.-213-19520C>T | |
| XM_011543643.1:c.-654-14105C>T | XP_011541945.1:n.-654-14105C>T | |
| XM_011543644.1:c.270-19520C>T | XP_011541946.1:n.270-19520C>T | |
| XM_011543645.1:c.-595-19520C>T | XP_011541947.1:n.-595-19520C>T | |
| NM_001331028.1:c.84-19520C>T | NP_001317957.1:n.84-19520C>T | |
| XM_005248596.5:c.270-19520C>T | XP_005248653.1:n.270-19520C>T | |
| XM_011543631.3:c.147-19520C>T | XP_011541933.1:n.147-19520C>T | |
| XM_011543632.3:c.147-19520C>T | XP_011541934.2:n.147-19520C>T | |
| XM_011543633.3:c.147-19520C>T | XP_011541935.2:n.147-19520C>T | |
| XM_011543634.2:c.-572-14105C>T | XP_011541936.1:n.-572-14105C>T | |
| XM_011543635.2:c.-131-19520C>T | XP_011541937.1:n.-131-19520C>T | |
| XM_011543636.2:c.-131-19520C>T | XP_011541938.1:n.-131-19520C>T | |
| XM_011543640.3:c.-284-19520C>T | XP_011541942.1:n.-284-19520C>T | |
| XM_011543641.2:c.-284-19520C>T | XP_011541943.1:n.-284-19520C>T | |
| XM_011543642.2:c.-213-19520C>T | XP_011541944.1:n.-213-19520C>T | |
| XM_011543643.2:c.-654-14105C>T | XP_011541945.1:n.-654-14105C>T | |
| XM_017009851.1:c.-524-19520C>T | XP_016865340.1:n.-524-19520C>T | |
| XM_024446206.1:c.-213-19520C>T | XP_024301974.1:n.-213-19520C>T | |
| NM_024615.4:c.147-19520C>T MANE Select | NP_078891.2:n.147-19520C>T | |
| NM_001178055.2:c.147-19520C>T | NP_001171526.1:n.147-19520C>T | |
| NM_001178056.2:c.147-19520C>T | NP_001171527.1:n.147-19520C>T | |
| NM_001331028.2:c.84-19520C>T | NP_001317957.1:n.84-19520C>T |