Linked Data
ClinVar Variation Id:
1331902
ClinVar RCV Id:
RCV001804418
dbSNP Id:
rs876660122
gnomAD v3:
5-112840683-A-T
gnomAD v4:
5-112840683-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840683A>T , CM000667.2:g.112840683A>T | GRCh38 |
| NC_000005.9:g.112176380A>T , CM000667.1:g.112176380A>T | GRCh37 |
| NC_000005.8:g.112204279A>T | NCBI36 |
| NG_008481.4:g.153163A>T , LRG_130:g.153163A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5143A>T | ENSP00000473355.2:p.Thr1715Ser | |
| ENST00000505350.2:c.*5095A>T | ENSP00000481752.1:n.*5095A>T | |
| ENST00000507379.6:c.5035A>T | ENSP00000423224.2:p.Thr1679Ser | |
| ENST00000509732.6:c.5089A>T | ENSP00000426541.2:p.Thr1697Ser | |
| ENST00000512211.7:c.5089A>T | ENSP00000423828.3:p.Thr1697Ser | |
| ENST00000257430.9:c.5089A>T MANE Select | ENSP00000257430.4:p.Thr1697Ser | |
| ENST00000257430.8:c.5089A>T | ENSP00000257430.4:p.Thr1697Ser | |
| ENST00000508376.6:c.5089A>T | ENSP00000427089.2:p.Thr1697Ser | |
| ENST00000508624.5:c.*4411A>T | ENSP00000424265.1:n.*4411A>T | |
| ENST00000520401.1:c.230+11711A>T | ||
| NM_000038.5:c.5089A>T | NP_000029.2:p.Thr1697Ser | |
| NM_001127510.2:c.5089A>T | NP_001120982.1:p.Thr1697Ser | |
| NM_001127511.2:c.5035A>T | NP_001120983.2:p.Thr1679Ser | |
| NM_001354895.1:c.5089A>T | NP_001341824.1:p.Thr1697Ser | |
| NM_001354896.1:c.5143A>T | NP_001341825.1:p.Thr1715Ser | |
| NM_001354897.1:c.5119A>T | NP_001341826.1:p.Thr1707Ser | |
| NM_001354898.1:c.5014A>T | NP_001341827.1:p.Thr1672Ser | |
| NM_001354899.1:c.5005A>T | NP_001341828.1:p.Thr1669Ser | |
| NM_001354900.1:c.4966A>T | NP_001341829.1:p.Thr1656Ser | |
| NM_001354901.1:c.4912A>T | NP_001341830.1:p.Thr1638Ser | |
| NM_001354902.1:c.4816A>T | NP_001341831.1:p.Thr1606Ser | |
| NM_001354903.1:c.4786A>T | NP_001341832.1:p.Thr1596Ser | |
| NM_001354904.1:c.4711A>T | NP_001341833.1:p.Thr1571Ser | |
| NM_001354905.1:c.4609A>T | NP_001341834.1:p.Thr1537Ser | |
| NM_001354906.1:c.4240A>T | NP_001341835.1:p.Thr1414Ser | |
| NM_000038.6:c.5089A>T MANE Select | NP_000029.2:p.Thr1697Ser | |
| NM_001127510.3:c.5089A>T | NP_001120982.1:p.Thr1697Ser | |
| NM_001127511.3:c.5035A>T | NP_001120983.2:p.Thr1679Ser | |
| NM_001354895.2:c.5089A>T | NP_001341824.1:p.Thr1697Ser | |
| NM_001354896.2:c.5143A>T | NP_001341825.1:p.Thr1715Ser | |
| NM_001354897.2:c.5119A>T | NP_001341826.1:p.Thr1707Ser | |
| NM_001354898.2:c.5014A>T | NP_001341827.1:p.Thr1672Ser | |
| NM_001354899.2:c.5005A>T | NP_001341828.1:p.Thr1669Ser | |
| NM_001354900.2:c.4966A>T | NP_001341829.1:p.Thr1656Ser | |
| NM_001354901.2:c.4912A>T | NP_001341830.1:p.Thr1638Ser | |
| NM_001354902.2:c.4816A>T | NP_001341831.1:p.Thr1606Ser | |
| NM_001354903.2:c.4786A>T | NP_001341832.1:p.Thr1596Ser | |
| NM_001354904.2:c.4711A>T | NP_001341833.1:p.Thr1571Ser | |
| NM_001354905.2:c.4609A>T | NP_001341834.1:p.Thr1537Ser | |
| NM_001354906.2:c.4240A>T | NP_001341835.1:p.Thr1414Ser |