gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58342372C>T , CM000680.2:g.58342372C>T | GRCh38 |
| NC_000018.9:g.56009604C>T , CM000680.1:g.56009604C>T | GRCh37 |
| NC_000018.8:g.54160584C>T | NCBI36 |
| NG_029954.1:g.302995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400345.8:c.1378-534C>T MANE Select | ENSP00000383199.2:n.1378-534C>T | |
| ENST00000635997.1:c.2215-534C>T | ENSP00000490696.1:n.2215-534C>T | |
| ENST00000674517.1:c.955-534C>T | ENSP00000501665.1:n.955-534C>T | |
| ENST00000674636.1:n.1458-534C>T | ||
| ENST00000674845.1:c.*1824-534C>T | ENSP00000502309.1:n.*1824-534C>T | |
| ENST00000674856.1:n.1116-534C>T | ||
| ENST00000675147.1:c.1297-534C>T | ENSP00000501840.1:n.1297-534C>T | |
| ENST00000675221.1:c.1243-534C>T | ENSP00000502761.1:n.1243-534C>T | |
| ENST00000675434.1:n.1182-534C>T | ||
| ENST00000675502.1:c.955-534C>T | ENSP00000502428.1:n.955-534C>T | |
| ENST00000675801.1:c.955-534C>T | ENSP00000502688.1:n.955-534C>T | |
| ENST00000675865.1:c.955-534C>T | ENSP00000502003.1:n.955-534C>T | |
| ENST00000676024.1:c.1317+575C>T | ENSP00000502105.1:n.1317+575C>T | |
| ENST00000676223.1:c.1279-534C>T | ENSP00000502361.1:n.1279-534C>T | |
| ENST00000676226.1:c.955-534C>T | ENSP00000502325.1:n.955-534C>T | |
| ENST00000679791.1:c.253-534C>T | ENSP00000505573.1:n.253-534C>T | |
| ENST00000256830.13:c.1066-534C>T | ENSP00000256830.8:n.1066-534C>T | |
| ENST00000356462.10:c.1186-534C>T | ENSP00000348847.5:n.1186-534C>T | |
| ENST00000357895.9:c.1354-534C>T | ENSP00000350569.4:n.1354-534C>T | |
| ENST00000382850.8:c.1318-534C>T | ENSP00000372301.3:n.1318-534C>T | |
| ENST00000400345.7:c.1378-534C>T | ENSP00000383199.2:n.1378-534C>T | |
| ENST00000431212.6:c.1015-534C>T | ENSP00000389406.1:n.1015-534C>T | |
| ENST00000435432.6:c.955-534C>T | ENSP00000393395.1:n.955-534C>T | |
| ENST00000456173.6:c.955-534C>T | ENSP00000405440.1:n.955-534C>T | |
| ENST00000456986.5:c.1015-534C>T | ENSP00000411947.1:n.1015-534C>T | |
| ENST00000586263.5:c.1294-534C>T | ENSP00000468546.1:n.1294-534C>T | |
| ENST00000587881.1:c.568-7165C>T | ENSP00000468332.1:n.568-7165C>T | |
| ENST00000589054.5:c.49-48274C>T | ENSP00000465669.1:n.49-48274C>T | |
| ENST00000590638.5:n.332-534C>T | ||
| NM_001144964.1:c.1015-534C>T | NP_001138436.1:n.1015-534C>T | |
| NM_001144965.1:c.1015-534C>T | NP_001138437.1:n.1015-534C>T | |
| NM_001144966.2:c.1015-534C>T | NP_001138438.1:n.1015-534C>T | |
| NM_001144967.2:c.1378-534C>T | NP_001138439.1:n.1378-534C>T | |
| NM_001144968.1:c.1354-534C>T | NP_001138440.1:n.1354-534C>T | |
| NM_001144969.1:c.1294-534C>T | NP_001138441.1:n.1294-534C>T | |
| NM_001144970.2:c.955-534C>T | NP_001138442.1:n.955-534C>T | |
| NM_001144971.1:c.955-534C>T | NP_001138443.1:n.955-534C>T | |
| NM_001243960.1:c.1186-534C>T | NP_001230889.1:n.1186-534C>T | |
| NM_015277.5:c.1318-534C>T | NP_056092.2:n.1318-534C>T | |
| XM_005266658.3:c.1279-534C>T | XP_005266715.2:n.1279-534C>T | |
| XM_005266660.3:c.1279-534C>T | XP_005266717.2:n.1279-534C>T | |
| XM_005266663.3:c.1219-534C>T | XP_005266720.2:n.1219-534C>T | |
| XM_006722421.2:c.1219-534C>T | XP_006722484.2:n.1219-534C>T | |
| XM_006722424.2:c.967-7165C>T | XP_006722487.2:n.967-7165C>T | |
| XM_006722425.2:c.967-7165C>T | XP_006722488.2:n.967-7165C>T | |
| XM_006722426.2:c.1456-534C>T | XP_006722489.1:n.1456-534C>T | |
| XM_006722428.2:c.1378-534C>T | XP_006722491.1:n.1378-534C>T | |
| XM_006722430.2:c.1015-534C>T | XP_006722493.1:n.1015-534C>T | |
| XM_011525887.1:c.1432-534C>T | XP_011524189.1:n.1432-534C>T | |
| XM_005266658.4:c.1279-534C>T | XP_005266715.2:n.1279-534C>T | |
| XM_005266660.4:c.1279-534C>T | XP_005266717.2:n.1279-534C>T | |
| XM_005266663.4:c.1219-534C>T | XP_005266720.2:n.1219-534C>T | |
| XM_006722421.4:c.1219-534C>T | XP_006722484.2:n.1219-534C>T | |
| XM_006722424.3:c.967-7165C>T | XP_006722487.2:n.967-7165C>T | |
| XM_006722425.3:c.967-7165C>T | XP_006722488.2:n.967-7165C>T | |
| XM_006722426.4:c.1456-534C>T | XP_006722489.1:n.1456-534C>T | |
| XM_006722428.4:c.1378-534C>T | XP_006722491.1:n.1378-534C>T | |
| XM_006722430.4:c.1015-534C>T | XP_006722493.1:n.1015-534C>T | |
| XM_011525887.3:c.1432-534C>T | XP_011524189.1:n.1432-534C>T | |
| XM_017025676.1:c.967-534C>T | XP_016881165.1:n.967-534C>T | |
| XM_017025677.1:c.967-534C>T | XP_016881166.1:n.967-534C>T | |
| XM_017025678.2:c.1318-534C>T | XP_016881167.1:n.1318-534C>T | |
| XM_017025679.2:c.1015-534C>T | XP_016881168.1:n.1015-534C>T | |
| XM_017025680.2:c.703-534C>T | XP_016881169.1:n.703-534C>T | |
| XM_017025681.2:c.703-7165C>T | XP_016881170.1:n.703-7165C>T | |
| XM_024451129.1:c.1015-534C>T | XP_024306897.1:n.1015-534C>T | |
| XM_024451130.1:c.955-534C>T | XP_024306898.1:n.955-534C>T | |
| XM_024451131.1:c.955-534C>T | XP_024306899.1:n.955-534C>T | |
| XM_024451132.1:c.703-534C>T | XP_024306900.1:n.703-534C>T | |
| XM_024451133.1:c.1015-534C>T | XP_024306901.1:n.1015-534C>T | |
| XM_024451134.1:c.1015-534C>T | XP_024306902.1:n.1015-534C>T | |
| XM_024451135.1:c.955-534C>T | XP_024306903.1:n.955-534C>T | |
| XM_024451136.1:c.955-534C>T | XP_024306904.1:n.955-534C>T | |
| XM_024451137.1:c.955-534C>T | XP_024306905.1:n.955-534C>T | |
| NM_001144967.3:c.1378-534C>T MANE Select | NP_001138439.1:n.1378-534C>T | |
| NM_001144965.2:c.1015-534C>T | NP_001138437.1:n.1015-534C>T | |
| NM_001144966.3:c.1015-534C>T | NP_001138438.1:n.1015-534C>T | |
| NM_001144968.2:c.1354-534C>T | NP_001138440.1:n.1354-534C>T | |
| NM_001144969.2:c.1294-534C>T | NP_001138441.1:n.1294-534C>T | |
| NM_001144970.3:c.955-534C>T | NP_001138442.1:n.955-534C>T | |
| NM_001144971.2:c.955-534C>T | NP_001138443.1:n.955-534C>T | |
| NM_001243960.2:c.1186-534C>T | NP_001230889.1:n.1186-534C>T | |
| NM_015277.6:c.1318-534C>T | NP_056092.2:n.1318-534C>T |