Linked Data
ClinVar Variation Id:
231954
dbSNP Id:
rs876659460
gnomAD v2:
5-112170806-T-G
gnomAD v4:
5-112835109-T-G
PubMed:
PMID:24599579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835109T>G , CM000667.2:g.112835109T>G | GRCh38 |
| NC_000005.9:g.112170806T>G , CM000667.1:g.112170806T>G | GRCh37 |
| NC_000005.8:g.112198705T>G | NCBI36 |
| NG_008481.4:g.147589T>G , LRG_130:g.147589T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1567T>G | ENSP00000484935.2:n.1567T>G | |
| ENST00000504915.3:c.1956T>G | ENSP00000473355.2:p.Ser652Arg | |
| ENST00000505350.2:c.*1908T>G | ENSP00000481752.1:n.*1908T>G | |
| ENST00000507379.6:c.1848T>G | ENSP00000423224.2:p.Ser616Arg | |
| ENST00000509732.6:c.1902T>G | ENSP00000426541.2:p.Ser634Arg | |
| ENST00000512211.7:c.1902T>G | ENSP00000423828.3:p.Ser634Arg | |
| ENST00000257430.9:c.1902T>G MANE Select | ENSP00000257430.4:p.Ser634Arg | |
| ENST00000257430.8:c.1902T>G | ENSP00000257430.4:p.Ser634Arg | |
| ENST00000502371.2:c.255T>G | ||
| ENST00000504915.2:c.591T>G | ENSP00000473355.1:p.Ser197Arg | |
| ENST00000507379.5:c.1848T>G | ENSP00000423224.1:p.Ser616Arg | |
| ENST00000508376.6:c.1902T>G | ENSP00000427089.2:p.Ser634Arg | |
| ENST00000508624.5:c.*1224T>G | ENSP00000424265.1:n.*1224T>G | |
| ENST00000512211.6:c.1902T>G | ENSP00000423828.2:p.Ser634Arg | |
| ENST00000520401.1:c.230+6137T>G | ||
| NM_000038.5:c.1902T>G | NP_000029.2:p.Ser634Arg | |
| NM_001127510.2:c.1902T>G | NP_001120982.1:p.Ser634Arg | |
| NM_001127511.2:c.1848T>G | NP_001120983.2:p.Ser616Arg | |
| NM_001354895.1:c.1902T>G | NP_001341824.1:p.Ser634Arg | |
| NM_001354896.1:c.1956T>G | NP_001341825.1:p.Ser652Arg | |
| NM_001354897.1:c.1932T>G | NP_001341826.1:p.Ser644Arg | |
| NM_001354898.1:c.1827T>G | NP_001341827.1:p.Ser609Arg | |
| NM_001354899.1:c.1818T>G | NP_001341828.1:p.Ser606Arg | |
| NM_001354900.1:c.1779T>G | NP_001341829.1:p.Ser593Arg | |
| NM_001354901.1:c.1725T>G | NP_001341830.1:p.Ser575Arg | |
| NM_001354902.1:c.1629T>G | NP_001341831.1:p.Ser543Arg | |
| NM_001354903.1:c.1599T>G | NP_001341832.1:p.Ser533Arg | |
| NM_001354904.1:c.1524T>G | NP_001341833.1:p.Ser508Arg | |
| NM_001354905.1:c.1422T>G | NP_001341834.1:p.Ser474Arg | |
| NM_001354906.1:c.1053T>G | NP_001341835.1:p.Ser351Arg | |
| NM_000038.6:c.1902T>G MANE Select | NP_000029.2:p.Ser634Arg | |
| NM_001127510.3:c.1902T>G | NP_001120982.1:p.Ser634Arg | |
| NM_001127511.3:c.1848T>G | NP_001120983.2:p.Ser616Arg | |
| NM_001354895.2:c.1902T>G | NP_001341824.1:p.Ser634Arg | |
| NM_001354896.2:c.1956T>G | NP_001341825.1:p.Ser652Arg | |
| NM_001354897.2:c.1932T>G | NP_001341826.1:p.Ser644Arg | |
| NM_001354898.2:c.1827T>G | NP_001341827.1:p.Ser609Arg | |
| NM_001354899.2:c.1818T>G | NP_001341828.1:p.Ser606Arg | |
| NM_001354900.2:c.1779T>G | NP_001341829.1:p.Ser593Arg | |
| NM_001354901.2:c.1725T>G | NP_001341830.1:p.Ser575Arg | |
| NM_001354902.2:c.1629T>G | NP_001341831.1:p.Ser543Arg | |
| NM_001354903.2:c.1599T>G | NP_001341832.1:p.Ser533Arg | |
| NM_001354904.2:c.1524T>G | NP_001341833.1:p.Ser508Arg | |
| NM_001354905.2:c.1422T>G | NP_001341834.1:p.Ser474Arg | |
| NM_001354906.2:c.1053T>G | NP_001341835.1:p.Ser351Arg |