Linked Data
ClinVar Variation Id:
469998
dbSNP Id:
rs563219702
gnomAD v2:
5-112176610-T-A
gnomAD v4:
5-112840913-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840913T>A , CM000667.2:g.112840913T>A | GRCh38 |
| NC_000005.9:g.112176610T>A , CM000667.1:g.112176610T>A | GRCh37 |
| NC_000005.8:g.112204509T>A | NCBI36 |
| NG_008481.4:g.153393T>A , LRG_130:g.153393T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5373T>A | ENSP00000473355.2:p.Thr1791= | |
| ENST00000505350.2:c.*5325T>A | ENSP00000481752.1:n.*5325T>A | |
| ENST00000507379.6:c.5265T>A | ENSP00000423224.2:p.Thr1755= | |
| ENST00000509732.6:c.5319T>A | ENSP00000426541.2:p.Thr1773= | |
| ENST00000512211.7:c.5319T>A | ENSP00000423828.3:p.Thr1773= | |
| ENST00000257430.9:c.5319T>A MANE Select | ENSP00000257430.4:p.Thr1773= | |
| ENST00000257430.8:c.5319T>A | ENSP00000257430.4:p.Thr1773= | |
| ENST00000508376.6:c.5319T>A | ENSP00000427089.2:p.Thr1773= | |
| ENST00000508624.5:c.*4641T>A | ENSP00000424265.1:n.*4641T>A | |
| ENST00000520401.1:c.230+11941T>A | ||
| NM_000038.5:c.5319T>A | NP_000029.2:p.Thr1773= | |
| NM_001127510.2:c.5319T>A | NP_001120982.1:p.Thr1773= | |
| NM_001127511.2:c.5265T>A | NP_001120983.2:p.Thr1755= | |
| NM_001354895.1:c.5319T>A | NP_001341824.1:p.Thr1773= | |
| NM_001354896.1:c.5373T>A | NP_001341825.1:p.Thr1791= | |
| NM_001354897.1:c.5349T>A | NP_001341826.1:p.Thr1783= | |
| NM_001354898.1:c.5244T>A | NP_001341827.1:p.Thr1748= | |
| NM_001354899.1:c.5235T>A | NP_001341828.1:p.Thr1745= | |
| NM_001354900.1:c.5196T>A | NP_001341829.1:p.Thr1732= | |
| NM_001354901.1:c.5142T>A | NP_001341830.1:p.Thr1714= | |
| NM_001354902.1:c.5046T>A | NP_001341831.1:p.Thr1682= | |
| NM_001354903.1:c.5016T>A | NP_001341832.1:p.Thr1672= | |
| NM_001354904.1:c.4941T>A | NP_001341833.1:p.Thr1647= | |
| NM_001354905.1:c.4839T>A | NP_001341834.1:p.Thr1613= | |
| NM_001354906.1:c.4470T>A | NP_001341835.1:p.Thr1490= | |
| NM_000038.6:c.5319T>A MANE Select | NP_000029.2:p.Thr1773= | |
| NM_001127510.3:c.5319T>A | NP_001120982.1:p.Thr1773= | |
| NM_001127511.3:c.5265T>A | NP_001120983.2:p.Thr1755= | |
| NM_001354895.2:c.5319T>A | NP_001341824.1:p.Thr1773= | |
| NM_001354896.2:c.5373T>A | NP_001341825.1:p.Thr1791= | |
| NM_001354897.2:c.5349T>A | NP_001341826.1:p.Thr1783= | |
| NM_001354898.2:c.5244T>A | NP_001341827.1:p.Thr1748= | |
| NM_001354899.2:c.5235T>A | NP_001341828.1:p.Thr1745= | |
| NM_001354900.2:c.5196T>A | NP_001341829.1:p.Thr1732= | |
| NM_001354901.2:c.5142T>A | NP_001341830.1:p.Thr1714= | |
| NM_001354902.2:c.5046T>A | NP_001341831.1:p.Thr1682= | |
| NM_001354903.2:c.5016T>A | NP_001341832.1:p.Thr1672= | |
| NM_001354904.2:c.4941T>A | NP_001341833.1:p.Thr1647= | |
| NM_001354905.2:c.4839T>A | NP_001341834.1:p.Thr1613= | |
| NM_001354906.2:c.4470T>A | NP_001341835.1:p.Thr1490= |