gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93028189 (EAS)
Genomes Max Group AF
0.93028189 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.20493512C>T , CM000666.2:g.20493512C>T | GRCh38 |
| NC_000004.11:g.20495135C>T , CM000666.1:g.20495135C>T | GRCh37 |
| NC_000004.10:g.20104233C>T | NCBI36 |
| NG_047105.1:g.246588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504154.6:c.914+1613C>T MANE Select | ENSP00000422591.1:n.914+1613C>T | |
| ENST00000273739.9:c.926+1613C>T | ENSP00000273739.5:n.926+1613C>T | |
| ENST00000503823.5:c.914+1613C>T | ENSP00000427548.1:n.914+1613C>T | |
| ENST00000503837.5:c.926+1613C>T | ENSP00000422261.1:n.926+1613C>T | |
| ENST00000504154.5:c.914+1613C>T | ENSP00000422591.1:n.914+1613C>T | |
| ENST00000622093.4:c.668+1613C>T | ENSP00000482129.1:n.668+1613C>T | |
| NM_001289135.1:c.926+1613C>T | NP_001276064.1:n.926+1613C>T | |
| NM_001289135.2:c.926+1613C>T | NP_001276064.1:n.926+1613C>T | |
| NM_001289136.1:c.914+1613C>T | NP_001276065.1:n.914+1613C>T | |
| NM_001289136.2:c.914+1613C>T | NP_001276065.1:n.914+1613C>T | |
| NM_004787.2:c.914+1613C>T | NP_004778.1:n.914+1613C>T | |
| NM_004787.3:c.914+1613C>T | NP_004778.1:n.914+1613C>T | |
| XM_005248211.2:c.926+1613C>T | XP_005248268.1:n.926+1613C>T | |
| XM_006713986.2:c.926+1613C>T | XP_006714049.1:n.926+1613C>T | |
| XM_011513909.1:c.824+1613C>T | XP_011512211.1:n.824+1613C>T | |
| XM_005248211.3:c.926+1613C>T | XP_005248268.1:n.926+1613C>T | |
| XM_006713986.3:c.926+1613C>T | XP_006714049.1:n.926+1613C>T | |
| XM_011513909.2:c.824+1613C>T | XP_011512211.1:n.824+1613C>T | |
| XM_017008845.1:c.812+1613C>T | XP_016864334.1:n.812+1613C>T | |
| NM_004787.4:c.914+1613C>T MANE Select | NP_004778.1:n.914+1613C>T | |
| NM_001289135.3:c.926+1613C>T | NP_001276064.1:n.926+1613C>T | |
| NM_001289136.3:c.914+1613C>T | NP_001276065.1:n.914+1613C>T |