Linked Data
ClinVar Variation Id:
1343445
dbSNP Id:
rs2149922960
gnomAD v4:
5-112840349-A-G
MyVariant Identifiers:
chr5:g.112176046A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840349A>G , CM000667.2:g.112840349A>G | GRCh38 |
| NC_000005.9:g.112176046A>G , CM000667.1:g.112176046A>G | GRCh37 |
| NC_000005.8:g.112203945A>G | NCBI36 |
| NG_008481.4:g.152829A>G , LRG_130:g.152829A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4809A>G | ENSP00000473355.2:p.Thr1603= | |
| ENST00000505350.2:c.*4761A>G | ENSP00000481752.1:n.*4761A>G | |
| ENST00000507379.6:c.4701A>G | ENSP00000423224.2:p.Thr1567= | |
| ENST00000509732.6:c.4755A>G | ENSP00000426541.2:p.Thr1585= | |
| ENST00000512211.7:c.4755A>G | ENSP00000423828.3:p.Thr1585= | |
| ENST00000257430.9:c.4755A>G MANE Select | ENSP00000257430.4:p.Thr1585= | |
| ENST00000257430.8:c.4755A>G | ENSP00000257430.4:p.Thr1585= | |
| ENST00000508376.6:c.4755A>G | ENSP00000427089.2:p.Thr1585= | |
| ENST00000508624.5:c.*4077A>G | ENSP00000424265.1:n.*4077A>G | |
| ENST00000520401.1:c.230+11377A>G | ||
| NM_000038.5:c.4755A>G | NP_000029.2:p.Thr1585= | |
| NM_001127510.2:c.4755A>G | NP_001120982.1:p.Thr1585= | |
| NM_001127511.2:c.4701A>G | NP_001120983.2:p.Thr1567= | |
| NM_001354895.1:c.4755A>G | NP_001341824.1:p.Thr1585= | |
| NM_001354896.1:c.4809A>G | NP_001341825.1:p.Thr1603= | |
| NM_001354897.1:c.4785A>G | NP_001341826.1:p.Thr1595= | |
| NM_001354898.1:c.4680A>G | NP_001341827.1:p.Thr1560= | |
| NM_001354899.1:c.4671A>G | NP_001341828.1:p.Thr1557= | |
| NM_001354900.1:c.4632A>G | NP_001341829.1:p.Thr1544= | |
| NM_001354901.1:c.4578A>G | NP_001341830.1:p.Thr1526= | |
| NM_001354902.1:c.4482A>G | NP_001341831.1:p.Thr1494= | |
| NM_001354903.1:c.4452A>G | NP_001341832.1:p.Thr1484= | |
| NM_001354904.1:c.4377A>G | NP_001341833.1:p.Thr1459= | |
| NM_001354905.1:c.4275A>G | NP_001341834.1:p.Thr1425= | |
| NM_001354906.1:c.3906A>G | NP_001341835.1:p.Thr1302= | |
| NM_000038.6:c.4755A>G MANE Select | NP_000029.2:p.Thr1585= | |
| NM_001127510.3:c.4755A>G | NP_001120982.1:p.Thr1585= | |
| NM_001127511.3:c.4701A>G | NP_001120983.2:p.Thr1567= | |
| NM_001354895.2:c.4755A>G | NP_001341824.1:p.Thr1585= | |
| NM_001354896.2:c.4809A>G | NP_001341825.1:p.Thr1603= | |
| NM_001354897.2:c.4785A>G | NP_001341826.1:p.Thr1595= | |
| NM_001354898.2:c.4680A>G | NP_001341827.1:p.Thr1560= | |
| NM_001354899.2:c.4671A>G | NP_001341828.1:p.Thr1557= | |
| NM_001354900.2:c.4632A>G | NP_001341829.1:p.Thr1544= | |
| NM_001354901.2:c.4578A>G | NP_001341830.1:p.Thr1526= | |
| NM_001354902.2:c.4482A>G | NP_001341831.1:p.Thr1494= | |
| NM_001354903.2:c.4452A>G | NP_001341832.1:p.Thr1484= | |
| NM_001354904.2:c.4377A>G | NP_001341833.1:p.Thr1459= | |
| NM_001354905.2:c.4275A>G | NP_001341834.1:p.Thr1425= | |
| NM_001354906.2:c.3906A>G | NP_001341835.1:p.Thr1302= |