Linked Data
ClinVar Variation Id:
941479
dbSNP Id:
rs748342378
ExAC:
5:112175623 A / C
gnomAD v2:
5-112175623-A-C
gnomAD v4:
5-112839926-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839926A>C , CM000667.2:g.112839926A>C | GRCh38 |
| NC_000005.9:g.112175623A>C , CM000667.1:g.112175623A>C | GRCh37 |
| NC_000005.8:g.112203522A>C | NCBI36 |
| NG_008481.4:g.152406A>C , LRG_130:g.152406A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4386A>C | ENSP00000473355.2:p.Gln1462His | |
| ENST00000505350.2:c.*4338A>C | ENSP00000481752.1:n.*4338A>C | |
| ENST00000507379.6:c.4278A>C | ENSP00000423224.2:p.Gln1426His | |
| ENST00000509732.6:c.4332A>C | ENSP00000426541.2:p.Gln1444His | |
| ENST00000512211.7:c.4332A>C | ENSP00000423828.3:p.Gln1444His | |
| ENST00000257430.9:c.4332A>C MANE Select | ENSP00000257430.4:p.Gln1444His | |
| ENST00000257430.8:c.4332A>C | ENSP00000257430.4:p.Gln1444His | |
| ENST00000508376.6:c.4332A>C | ENSP00000427089.2:p.Gln1444His | |
| ENST00000508624.5:c.*3654A>C | ENSP00000424265.1:n.*3654A>C | |
| ENST00000520401.1:c.230+10954A>C | ||
| NM_000038.5:c.4332A>C | NP_000029.2:p.Gln1444His | |
| NM_001127510.2:c.4332A>C | NP_001120982.1:p.Gln1444His | |
| NM_001127511.2:c.4278A>C | NP_001120983.2:p.Gln1426His | |
| NM_001354895.1:c.4332A>C | NP_001341824.1:p.Gln1444His | |
| NM_001354896.1:c.4386A>C | NP_001341825.1:p.Gln1462His | |
| NM_001354897.1:c.4362A>C | NP_001341826.1:p.Gln1454His | |
| NM_001354898.1:c.4257A>C | NP_001341827.1:p.Gln1419His | |
| NM_001354899.1:c.4248A>C | NP_001341828.1:p.Gln1416His | |
| NM_001354900.1:c.4209A>C | NP_001341829.1:p.Gln1403His | |
| NM_001354901.1:c.4155A>C | NP_001341830.1:p.Gln1385His | |
| NM_001354902.1:c.4059A>C | NP_001341831.1:p.Gln1353His | |
| NM_001354903.1:c.4029A>C | NP_001341832.1:p.Gln1343His | |
| NM_001354904.1:c.3954A>C | NP_001341833.1:p.Gln1318His | |
| NM_001354905.1:c.3852A>C | NP_001341834.1:p.Gln1284His | |
| NM_001354906.1:c.3483A>C | NP_001341835.1:p.Gln1161His | |
| NM_000038.6:c.4332A>C MANE Select | NP_000029.2:p.Gln1444His | |
| NM_001127510.3:c.4332A>C | NP_001120982.1:p.Gln1444His | |
| NM_001127511.3:c.4278A>C | NP_001120983.2:p.Gln1426His | |
| NM_001354895.2:c.4332A>C | NP_001341824.1:p.Gln1444His | |
| NM_001354896.2:c.4386A>C | NP_001341825.1:p.Gln1462His | |
| NM_001354897.2:c.4362A>C | NP_001341826.1:p.Gln1454His | |
| NM_001354898.2:c.4257A>C | NP_001341827.1:p.Gln1419His | |
| NM_001354899.2:c.4248A>C | NP_001341828.1:p.Gln1416His | |
| NM_001354900.2:c.4209A>C | NP_001341829.1:p.Gln1403His | |
| NM_001354901.2:c.4155A>C | NP_001341830.1:p.Gln1385His | |
| NM_001354902.2:c.4059A>C | NP_001341831.1:p.Gln1353His | |
| NM_001354903.2:c.4029A>C | NP_001341832.1:p.Gln1343His | |
| NM_001354904.2:c.3954A>C | NP_001341833.1:p.Gln1318His | |
| NM_001354905.2:c.3852A>C | NP_001341834.1:p.Gln1284His | |
| NM_001354906.2:c.3483A>C | NP_001341835.1:p.Gln1161His |