Linked Data
ClinVar Variation Id:
3222645
ClinVar RCV Id:
RCV004516030
dbSNP Id:
rs752539905
ExAC:
5:112170859 A / G
gnomAD v2:
5-112170859-A-G
gnomAD v4:
5-112835162-A-G
COSMIC:
COSM6475463
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835162A>G , CM000667.2:g.112835162A>G | GRCh38 |
| NC_000005.9:g.112170859A>G , CM000667.1:g.112170859A>G | GRCh37 |
| NC_000005.8:g.112198758A>G | NCBI36 |
| NG_008481.4:g.147642A>G , LRG_130:g.147642A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1620A>G | ENSP00000484935.2:n.1620A>G | |
| ENST00000504915.3:c.2009A>G | ENSP00000473355.2:p.His670Arg | |
| ENST00000505350.2:c.*1961A>G | ENSP00000481752.1:n.*1961A>G | |
| ENST00000507379.6:c.1901A>G | ENSP00000423224.2:p.His634Arg | |
| ENST00000509732.6:c.1955A>G | ENSP00000426541.2:p.His652Arg | |
| ENST00000512211.7:c.1955A>G | ENSP00000423828.3:p.His652Arg | |
| ENST00000257430.9:c.1955A>G MANE Select | ENSP00000257430.4:p.His652Arg | |
| ENST00000257430.8:c.1955A>G | ENSP00000257430.4:p.His652Arg | |
| ENST00000502371.2:c.308A>G | ||
| ENST00000504915.2:c.644A>G | ENSP00000473355.1:p.His215Arg | |
| ENST00000507379.5:c.1901A>G | ENSP00000423224.1:p.His634Arg | |
| ENST00000508376.6:c.1955A>G | ENSP00000427089.2:p.His652Arg | |
| ENST00000508624.5:c.*1277A>G | ENSP00000424265.1:n.*1277A>G | |
| ENST00000512211.6:c.1955A>G | ENSP00000423828.2:p.His652Arg | |
| ENST00000520401.1:c.230+6190A>G | ||
| NM_000038.5:c.1955A>G | NP_000029.2:p.His652Arg | |
| NM_001127510.2:c.1955A>G | NP_001120982.1:p.His652Arg | |
| NM_001127511.2:c.1901A>G | NP_001120983.2:p.His634Arg | |
| NM_001354895.1:c.1955A>G | NP_001341824.1:p.His652Arg | |
| NM_001354896.1:c.2009A>G | NP_001341825.1:p.His670Arg | |
| NM_001354897.1:c.1985A>G | NP_001341826.1:p.His662Arg | |
| NM_001354898.1:c.1880A>G | NP_001341827.1:p.His627Arg | |
| NM_001354899.1:c.1871A>G | NP_001341828.1:p.His624Arg | |
| NM_001354900.1:c.1832A>G | NP_001341829.1:p.His611Arg | |
| NM_001354901.1:c.1778A>G | NP_001341830.1:p.His593Arg | |
| NM_001354902.1:c.1682A>G | NP_001341831.1:p.His561Arg | |
| NM_001354903.1:c.1652A>G | NP_001341832.1:p.His551Arg | |
| NM_001354904.1:c.1577A>G | NP_001341833.1:p.His526Arg | |
| NM_001354905.1:c.1475A>G | NP_001341834.1:p.His492Arg | |
| NM_001354906.1:c.1106A>G | NP_001341835.1:p.His369Arg | |
| NM_000038.6:c.1955A>G MANE Select | NP_000029.2:p.His652Arg | |
| NM_001127510.3:c.1955A>G | NP_001120982.1:p.His652Arg | |
| NM_001127511.3:c.1901A>G | NP_001120983.2:p.His634Arg | |
| NM_001354895.2:c.1955A>G | NP_001341824.1:p.His652Arg | |
| NM_001354896.2:c.2009A>G | NP_001341825.1:p.His670Arg | |
| NM_001354897.2:c.1985A>G | NP_001341826.1:p.His662Arg | |
| NM_001354898.2:c.1880A>G | NP_001341827.1:p.His627Arg | |
| NM_001354899.2:c.1871A>G | NP_001341828.1:p.His624Arg | |
| NM_001354900.2:c.1832A>G | NP_001341829.1:p.His611Arg | |
| NM_001354901.2:c.1778A>G | NP_001341830.1:p.His593Arg | |
| NM_001354902.2:c.1682A>G | NP_001341831.1:p.His561Arg | |
| NM_001354903.2:c.1652A>G | NP_001341832.1:p.His551Arg | |
| NM_001354904.2:c.1577A>G | NP_001341833.1:p.His526Arg | |
| NM_001354905.2:c.1475A>G | NP_001341834.1:p.His492Arg | |
| NM_001354906.2:c.1106A>G | NP_001341835.1:p.His369Arg |