gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82210463 (EAS)
Genomes Max Group AF
0.8053593 (EAS)
Exomes Max Group AF
0.82208622 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138306554A>G , CM000665.2:g.138306554A>G | GRCh38 |
| NC_000003.11:g.138025396A>G , CM000665.1:g.138025396A>G | GRCh37 |
| NC_000003.10:g.139508086A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333911.9:c.461-74T>C MANE Select | ENSP00000335444.3:n.461-74T>C | |
| ENST00000317876.8:c.278-74T>C | ENSP00000321929.4:n.278-74T>C | |
| ENST00000333911.7:c.461-74T>C | ENSP00000335444.3:n.461-74T>C | |
| ENST00000383180.6:c.278-74T>C | ENSP00000372667.2:n.278-74T>C | |
| ENST00000474690.5:c.252-74T>C | ||
| ENST00000475751.5:c.461-74T>C | ENSP00000419147.1:n.461-74T>C | |
| ENST00000478220.5:n.376-74T>C | ||
| ENST00000484930.5:c.272-74T>C | ENSP00000419882.1:n.272-74T>C | |
| ENST00000492993.5:c.278-74T>C | ENSP00000419355.1:n.278-74T>C | |
| NM_178130.2:c.278-74T>C | NP_835231.1:n.278-74T>C | |
| XM_005247429.2:c.497-74T>C | XP_005247486.1:n.497-74T>C | |
| XM_006713615.2:c.344-74T>C | XP_006713678.1:n.344-74T>C | |
| XM_006713616.2:c.272-74T>C | XP_006713679.1:n.272-74T>C | |
| XM_011512771.1:c.461-74T>C | XP_011511073.1:n.461-74T>C | |
| XM_011512772.1:c.395-74T>C | XP_011511074.1:n.395-74T>C | |
| XM_011512773.1:c.395-74T>C | XP_011511075.1:n.395-74T>C | |
| XM_011512774.1:c.380-74T>C | XP_011511076.1:n.380-74T>C | |
| XM_011512775.1:c.308-74T>C | XP_011511077.1:n.308-74T>C | |
| XM_011512776.1:c.308-74T>C | XP_011511078.1:n.308-74T>C | |
| XM_011512777.1:c.380-74T>C | XP_011511079.1:n.380-74T>C | |
| XM_011512778.1:c.5-74T>C | XP_011511080.1:n.5-74T>C | |
| XR_924130.1:n.796-74T>C | ||
| XR_924131.1:n.798-74T>C | ||
| XR_924132.1:n.678-74T>C | ||
| NM_001349018.1:c.461-74T>C | NP_001335947.1:n.461-74T>C | |
| NM_001349020.1:c.272-74T>C | NP_001335949.1:n.272-74T>C | |
| NM_001349021.1:c.272-74T>C | NP_001335950.1:n.272-74T>C | |
| NM_001349022.1:c.278-74T>C | NP_001335951.1:n.278-74T>C | |
| NM_001349023.1:c.191-74T>C | NP_001335952.1:n.191-74T>C | |
| NM_001349024.1:c.344-74T>C | NP_001335953.1:n.344-74T>C | |
| NM_001349025.1:c.344-74T>C | NP_001335954.1:n.344-74T>C | |
| NM_178130.3:c.278-74T>C | NP_835231.1:n.278-74T>C | |
| XM_005247429.4:c.497-74T>C | XP_005247486.1:n.497-74T>C | |
| XM_011512774.3:c.380-74T>C | XP_011511076.1:n.380-74T>C | |
| XM_011512777.3:c.380-74T>C | XP_011511079.1:n.380-74T>C | |
| XM_017006306.2:c.497-74T>C | XP_016861795.1:n.497-74T>C | |
| XM_017006308.2:c.461-74T>C | XP_016861797.1:n.461-74T>C | |
| XM_017006309.2:c.395-74T>C | XP_016861798.1:n.395-74T>C | |
| XM_017006310.2:c.395-74T>C | XP_016861799.1:n.395-74T>C | |
| XM_017006311.2:c.380-74T>C | XP_016861800.1:n.380-74T>C | |
| XM_017006312.2:c.344-74T>C | XP_016861801.1:n.344-74T>C | |
| XM_017006313.2:c.308-74T>C | XP_016861802.1:n.308-74T>C | |
| XM_017006314.2:c.308-74T>C | XP_016861803.1:n.308-74T>C | |
| XM_017006315.2:c.278-74T>C | XP_016861804.1:n.278-74T>C | |
| XM_017006316.2:c.272-74T>C | XP_016861805.1:n.272-74T>C | |
| XM_017006317.2:c.278-74T>C | XP_016861806.1:n.278-74T>C | |
| XM_017006319.2:c.5-74T>C | XP_016861808.1:n.5-74T>C | |
| XR_001740139.1:n.832-74T>C | ||
| XR_924130.3:n.500-74T>C | ||
| XR_924131.2:n.500-74T>C | ||
| XR_924132.2:n.383-74T>C | ||
| NM_001349018.2:c.461-74T>C MANE Select | NP_001335947.1:n.461-74T>C | |
| NM_001349020.2:c.272-74T>C | NP_001335949.1:n.272-74T>C | |
| NM_001349021.2:c.272-74T>C | NP_001335950.1:n.272-74T>C | |
| NM_001349022.2:c.278-74T>C | NP_001335951.1:n.278-74T>C | |
| NM_001349023.2:c.191-74T>C | NP_001335952.1:n.191-74T>C | |
| NM_001349024.2:c.344-74T>C | NP_001335953.1:n.344-74T>C | |
| NM_001349025.2:c.344-74T>C | NP_001335954.1:n.344-74T>C | |
| NM_178130.4:c.278-74T>C | NP_835231.1:n.278-74T>C |