Linked Data
ClinVar Variation Id:
127298
dbSNP Id:
rs374048423
ExAC:
5:112176057 G / A
gnomAD v3:
5-112840360-G-A
gnomAD v4:
5-112840360-G-A
COSMIC:
COSM327128
PubMed:
PMID:26976419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840360G>A , CM000667.2:g.112840360G>A | GRCh38 |
| NC_000005.9:g.112176057G>A , CM000667.1:g.112176057G>A | GRCh37 |
| NC_000005.8:g.112203956G>A | NCBI36 |
| NG_008481.4:g.152840G>A , LRG_130:g.152840G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4820G>A | ENSP00000473355.2:p.Arg1607His | |
| ENST00000505350.2:c.*4772G>A | ENSP00000481752.1:n.*4772G>A | |
| ENST00000507379.6:c.4712G>A | ENSP00000423224.2:p.Arg1571His | |
| ENST00000509732.6:c.4766G>A | ENSP00000426541.2:p.Arg1589His | |
| ENST00000512211.7:c.4766G>A | ENSP00000423828.3:p.Arg1589His | |
| ENST00000257430.9:c.4766G>A MANE Select | ENSP00000257430.4:p.Arg1589His | |
| ENST00000257430.8:c.4766G>A | ENSP00000257430.4:p.Arg1589His | |
| ENST00000508376.6:c.4766G>A | ENSP00000427089.2:p.Arg1589His | |
| ENST00000508624.5:c.*4088G>A | ENSP00000424265.1:n.*4088G>A | |
| ENST00000520401.1:c.230+11388G>A | ||
| NM_000038.5:c.4766G>A | NP_000029.2:p.Arg1589His | |
| NM_001127510.2:c.4766G>A | NP_001120982.1:p.Arg1589His | |
| NM_001127511.2:c.4712G>A | NP_001120983.2:p.Arg1571His | |
| NM_001354895.1:c.4766G>A | NP_001341824.1:p.Arg1589His | |
| NM_001354896.1:c.4820G>A | NP_001341825.1:p.Arg1607His | |
| NM_001354897.1:c.4796G>A | NP_001341826.1:p.Arg1599His | |
| NM_001354898.1:c.4691G>A | NP_001341827.1:p.Arg1564His | |
| NM_001354899.1:c.4682G>A | NP_001341828.1:p.Arg1561His | |
| NM_001354900.1:c.4643G>A | NP_001341829.1:p.Arg1548His | |
| NM_001354901.1:c.4589G>A | NP_001341830.1:p.Arg1530His | |
| NM_001354902.1:c.4493G>A | NP_001341831.1:p.Arg1498His | |
| NM_001354903.1:c.4463G>A | NP_001341832.1:p.Arg1488His | |
| NM_001354904.1:c.4388G>A | NP_001341833.1:p.Arg1463His | |
| NM_001354905.1:c.4286G>A | NP_001341834.1:p.Arg1429His | |
| NM_001354906.1:c.3917G>A | NP_001341835.1:p.Arg1306His | |
| NM_000038.6:c.4766G>A MANE Select | NP_000029.2:p.Arg1589His | |
| NM_001127510.3:c.4766G>A | NP_001120982.1:p.Arg1589His | |
| NM_001127511.3:c.4712G>A | NP_001120983.2:p.Arg1571His | |
| NM_001354895.2:c.4766G>A | NP_001341824.1:p.Arg1589His | |
| NM_001354896.2:c.4820G>A | NP_001341825.1:p.Arg1607His | |
| NM_001354897.2:c.4796G>A | NP_001341826.1:p.Arg1599His | |
| NM_001354898.2:c.4691G>A | NP_001341827.1:p.Arg1564His | |
| NM_001354899.2:c.4682G>A | NP_001341828.1:p.Arg1561His | |
| NM_001354900.2:c.4643G>A | NP_001341829.1:p.Arg1548His | |
| NM_001354901.2:c.4589G>A | NP_001341830.1:p.Arg1530His | |
| NM_001354902.2:c.4493G>A | NP_001341831.1:p.Arg1498His | |
| NM_001354903.2:c.4463G>A | NP_001341832.1:p.Arg1488His | |
| NM_001354904.2:c.4388G>A | NP_001341833.1:p.Arg1463His | |
| NM_001354905.2:c.4286G>A | NP_001341834.1:p.Arg1429His | |
| NM_001354906.2:c.3917G>A | NP_001341835.1:p.Arg1306His |