gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103686015C>A , CM000676.2:g.103686015C>A | GRCh38 |
| NC_000014.8:g.104152352C>A , CM000676.1:g.104152352C>A | GRCh37 |
| NC_000014.7:g.103222105C>A | NCBI36 |
| NG_012307.1:g.61828C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334553.11:c.1651-1066C>A MANE Select | ENSP00000334523.6:n.1651-1066C>A | |
| ENST00000246489.11:c.1651-1066C>A | ENSP00000246489.7:n.1651-1066C>A | |
| ENST00000334553.10:c.1651-1066C>A | ENSP00000334523.6:n.1651-1066C>A | |
| ENST00000347839.10:c.1624-1066C>A | ENSP00000334618.7:n.1624-1066C>A | |
| ENST00000348520.10:c.1650+6470C>A | ENSP00000341154.6:n.1650+6470C>A | |
| ENST00000389744.8:c.*396C>A | ENSP00000374394.3:n.*396C>A | |
| ENST00000445352.8:c.*396C>A | ENSP00000412693.4:n.*396C>A | |
| ENST00000452929.6:c.1651-1066C>A | ENSP00000414982.2:n.1651-1066C>A | |
| ENST00000535194.2:c.149-6344C>A | ||
| ENST00000537046.6:c.542-1066C>A | ||
| ENST00000553286.5:c.*997C>A | ENSP00000452487.1:n.*997C>A | |
| ENST00000553325.5:c.791C>A | ||
| ENST00000554228.5:c.*18+979C>A | ENSP00000450616.1:n.*18+979C>A | |
| ENST00000554280.5:c.1624-1066C>A | ENSP00000451242.1:n.1624-1066C>A | |
| ENST00000555836.5:c.1624-1066C>A | ENSP00000452481.1:n.1624-1066C>A | |
| ENST00000557450.5:c.1623+6497C>A | ENSP00000450648.1:n.1623+6497C>A | |
| ENST00000634686.1:c.1624-6345C>A | ENSP00000488938.1:n.1624-6345C>A | |
| NM_001130107.1:c.1651-1066C>A | NP_001123579.1:n.1651-1066C>A | |
| NM_005552.4:c.*396C>A | NP_005543.2:n.*396C>A | |
| NM_182923.3:c.1650+6470C>A | NP_891553.2:n.1650+6470C>A | |
| NM_001130107.2:c.1651-1066C>A | NP_001123579.1:n.1651-1066C>A | |
| NM_005552.5:c.*396C>A | NP_005543.2:n.*396C>A | |
| NM_182923.4:c.1650+6470C>A | NP_891553.2:n.1650+6470C>A | |
| NM_001394832.1:c.1726-1066C>A | NP_001381761.1:n.1726-1066C>A | |
| NM_001394833.1:c.1726-1066C>A | NP_001381762.1:n.1726-1066C>A | |
| NM_001394834.1:c.1699-1066C>A | NP_001381763.1:n.1699-1066C>A | |
| NM_001394835.1:c.1699-1066C>A | NP_001381764.1:n.1699-1066C>A | |
| NM_001394836.1:c.1726-1066C>A | NP_001381765.1:n.1726-1066C>A | |
| NM_001394837.1:c.1651-1066C>A MANE Select | NP_001381766.1:n.1651-1066C>A | |
| NM_001394838.1:c.1651-1066C>A | NP_001381767.1:n.1651-1066C>A | |
| NM_001394839.1:c.1699-1066C>A | NP_001381768.1:n.1699-1066C>A | |
| NM_001394840.1:c.1624-1066C>A | NP_001381769.1:n.1624-1066C>A | |
| NM_001394841.1:c.1624-1066C>A | NP_001381770.1:n.1624-1066C>A | |
| NM_001394842.1:c.1648-1066C>A | NP_001381771.1:n.1648-1066C>A | |
| NM_001394843.1:c.1645-1066C>A | NP_001381772.1:n.1645-1066C>A | |
| NM_001394844.1:c.1624-1066C>A | NP_001381773.1:n.1624-1066C>A | |
| NM_001394845.1:c.1651-1066C>A | NP_001381774.1:n.1651-1066C>A | |
| NM_001394846.1:c.1725+6470C>A | NP_001381775.1:n.1725+6470C>A | |
| NM_001394847.1:c.1624-1066C>A | NP_001381776.1:n.1624-1066C>A | |
| NM_001394848.1:c.1698+6497C>A | NP_001381777.1:n.1698+6497C>A | |
| NM_001394849.1:c.*396C>A | NP_001381778.1:n.*396C>A | |
| NM_001394850.1:c.*396C>A | NP_001381779.1:n.*396C>A | |
| NM_001394851.1:c.1644+6470C>A | NP_001381780.1:n.1644+6470C>A | |
| NM_001394852.1:c.1623+6497C>A | NP_001381781.1:n.1623+6497C>A | |
| NM_001394853.1:c.1623+6497C>A | NP_001381782.1:n.1623+6497C>A | |
| NM_001394854.1:c.1651-6344C>A | NP_001381783.1:n.1651-6344C>A | |
| NM_001394855.1:c.*396C>A | NP_001381784.1:n.*396C>A | |
| NM_001394856.1:c.*372C>A | NP_001381785.1:n.*372C>A | |
| NM_001394857.1:c.*396C>A | NP_001381786.1:n.*396C>A | |
| NM_001394858.1:c.*372C>A | NP_001381787.1:n.*372C>A | |
| NM_001394859.1:c.1624-6344C>A | NP_001381788.1:n.1624-6344C>A | |
| NM_001394860.1:c.*372C>A | NP_001381789.1:n.*372C>A |