Linked Data
ClinVar Variation Id:
470078
dbSNP Id:
rs767691072
ExAC:
5:112178427 C / G
gnomAD v2:
5-112178427-C-G
gnomAD v3:
5-112842730-C-G
gnomAD v4:
5-112842730-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842730C>G , CM000667.2:g.112842730C>G | GRCh38 |
| NC_000005.9:g.112178427C>G , CM000667.1:g.112178427C>G | GRCh37 |
| NC_000005.8:g.112206326C>G | NCBI36 |
| NG_008481.4:g.155210C>G , LRG_130:g.155210C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7190C>G | ENSP00000473355.2:p.Thr2397Ser | |
| ENST00000505350.2:c.*7142C>G | ENSP00000481752.1:n.*7142C>G | |
| ENST00000507379.6:c.7082C>G | ENSP00000423224.2:p.Thr2361Ser | |
| ENST00000509732.6:c.7136C>G | ENSP00000426541.2:p.Thr2379Ser | |
| ENST00000512211.7:c.7136C>G | ENSP00000423828.3:p.Thr2379Ser | |
| ENST00000257430.9:c.7136C>G MANE Select | ENSP00000257430.4:p.Thr2379Ser | |
| ENST00000257430.8:c.7136C>G | ENSP00000257430.4:p.Thr2379Ser | |
| ENST00000508376.6:c.7136C>G | ENSP00000427089.2:p.Thr2379Ser | |
| ENST00000508624.5:c.*6458C>G | ENSP00000424265.1:n.*6458C>G | |
| ENST00000520401.1:c.230+13758C>G | ||
| NM_000038.5:c.7136C>G | NP_000029.2:p.Thr2379Ser | |
| NM_001127510.2:c.7136C>G | NP_001120982.1:p.Thr2379Ser | |
| NM_001127511.2:c.7082C>G | NP_001120983.2:p.Thr2361Ser | |
| NM_001354895.1:c.7136C>G | NP_001341824.1:p.Thr2379Ser | |
| NM_001354896.1:c.7190C>G | NP_001341825.1:p.Thr2397Ser | |
| NM_001354897.1:c.7166C>G | NP_001341826.1:p.Thr2389Ser | |
| NM_001354898.1:c.7061C>G | NP_001341827.1:p.Thr2354Ser | |
| NM_001354899.1:c.7052C>G | NP_001341828.1:p.Thr2351Ser | |
| NM_001354900.1:c.7013C>G | NP_001341829.1:p.Thr2338Ser | |
| NM_001354901.1:c.6959C>G | NP_001341830.1:p.Thr2320Ser | |
| NM_001354902.1:c.6863C>G | NP_001341831.1:p.Thr2288Ser | |
| NM_001354903.1:c.6833C>G | NP_001341832.1:p.Thr2278Ser | |
| NM_001354904.1:c.6758C>G | NP_001341833.1:p.Thr2253Ser | |
| NM_001354905.1:c.6656C>G | NP_001341834.1:p.Thr2219Ser | |
| NM_001354906.1:c.6287C>G | NP_001341835.1:p.Thr2096Ser | |
| NM_000038.6:c.7136C>G MANE Select | NP_000029.2:p.Thr2379Ser | |
| NM_001127510.3:c.7136C>G | NP_001120982.1:p.Thr2379Ser | |
| NM_001127511.3:c.7082C>G | NP_001120983.2:p.Thr2361Ser | |
| NM_001354895.2:c.7136C>G | NP_001341824.1:p.Thr2379Ser | |
| NM_001354896.2:c.7190C>G | NP_001341825.1:p.Thr2397Ser | |
| NM_001354897.2:c.7166C>G | NP_001341826.1:p.Thr2389Ser | |
| NM_001354898.2:c.7061C>G | NP_001341827.1:p.Thr2354Ser | |
| NM_001354899.2:c.7052C>G | NP_001341828.1:p.Thr2351Ser | |
| NM_001354900.2:c.7013C>G | NP_001341829.1:p.Thr2338Ser | |
| NM_001354901.2:c.6959C>G | NP_001341830.1:p.Thr2320Ser | |
| NM_001354902.2:c.6863C>G | NP_001341831.1:p.Thr2288Ser | |
| NM_001354903.2:c.6833C>G | NP_001341832.1:p.Thr2278Ser | |
| NM_001354904.2:c.6758C>G | NP_001341833.1:p.Thr2253Ser | |
| NM_001354905.2:c.6656C>G | NP_001341834.1:p.Thr2219Ser | |
| NM_001354906.2:c.6287C>G | NP_001341835.1:p.Thr2096Ser |