Linked Data
ClinVar Variation Id:
482513
dbSNP Id:
rs750054763
ExAC:
5:112174769 A / G
gnomAD v2:
5-112174769-A-G
gnomAD v4:
5-112839072-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839072A>G , CM000667.2:g.112839072A>G | GRCh38 |
| NC_000005.9:g.112174769A>G , CM000667.1:g.112174769A>G | GRCh37 |
| NC_000005.8:g.112202668A>G | NCBI36 |
| NG_008481.4:g.151552A>G , LRG_130:g.151552A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3143A>G | ENSP00000484935.2:n.3143A>G | |
| ENST00000504915.3:c.3532A>G | ENSP00000473355.2:p.Thr1178Ala | |
| ENST00000505350.2:c.*3484A>G | ENSP00000481752.1:n.*3484A>G | |
| ENST00000507379.6:c.3424A>G | ENSP00000423224.2:p.Thr1142Ala | |
| ENST00000509732.6:c.3478A>G | ENSP00000426541.2:p.Thr1160Ala | |
| ENST00000512211.7:c.3478A>G | ENSP00000423828.3:p.Thr1160Ala | |
| ENST00000257430.9:c.3478A>G MANE Select | ENSP00000257430.4:p.Thr1160Ala | |
| ENST00000257430.8:c.3478A>G | ENSP00000257430.4:p.Thr1160Ala | |
| ENST00000502371.2:c.1831A>G | ||
| ENST00000508376.6:c.3478A>G | ENSP00000427089.2:p.Thr1160Ala | |
| ENST00000508624.5:c.*2800A>G | ENSP00000424265.1:n.*2800A>G | |
| ENST00000512211.6:c.3478A>G | ENSP00000423828.2:p.Thr1160Ala | |
| ENST00000520401.1:c.230+10100A>G | ||
| NM_000038.5:c.3478A>G | NP_000029.2:p.Thr1160Ala | |
| NM_001127510.2:c.3478A>G | NP_001120982.1:p.Thr1160Ala | |
| NM_001127511.2:c.3424A>G | NP_001120983.2:p.Thr1142Ala | |
| NM_001354895.1:c.3478A>G | NP_001341824.1:p.Thr1160Ala | |
| NM_001354896.1:c.3532A>G | NP_001341825.1:p.Thr1178Ala | |
| NM_001354897.1:c.3508A>G | NP_001341826.1:p.Thr1170Ala | |
| NM_001354898.1:c.3403A>G | NP_001341827.1:p.Thr1135Ala | |
| NM_001354899.1:c.3394A>G | NP_001341828.1:p.Thr1132Ala | |
| NM_001354900.1:c.3355A>G | NP_001341829.1:p.Thr1119Ala | |
| NM_001354901.1:c.3301A>G | NP_001341830.1:p.Thr1101Ala | |
| NM_001354902.1:c.3205A>G | NP_001341831.1:p.Thr1069Ala | |
| NM_001354903.1:c.3175A>G | NP_001341832.1:p.Thr1059Ala | |
| NM_001354904.1:c.3100A>G | NP_001341833.1:p.Thr1034Ala | |
| NM_001354905.1:c.2998A>G | NP_001341834.1:p.Thr1000Ala | |
| NM_001354906.1:c.2629A>G | NP_001341835.1:p.Thr877Ala | |
| NM_000038.6:c.3478A>G MANE Select | NP_000029.2:p.Thr1160Ala | |
| NM_001127510.3:c.3478A>G | NP_001120982.1:p.Thr1160Ala | |
| NM_001127511.3:c.3424A>G | NP_001120983.2:p.Thr1142Ala | |
| NM_001354895.2:c.3478A>G | NP_001341824.1:p.Thr1160Ala | |
| NM_001354896.2:c.3532A>G | NP_001341825.1:p.Thr1178Ala | |
| NM_001354897.2:c.3508A>G | NP_001341826.1:p.Thr1170Ala | |
| NM_001354898.2:c.3403A>G | NP_001341827.1:p.Thr1135Ala | |
| NM_001354899.2:c.3394A>G | NP_001341828.1:p.Thr1132Ala | |
| NM_001354900.2:c.3355A>G | NP_001341829.1:p.Thr1119Ala | |
| NM_001354901.2:c.3301A>G | NP_001341830.1:p.Thr1101Ala | |
| NM_001354902.2:c.3205A>G | NP_001341831.1:p.Thr1069Ala | |
| NM_001354903.2:c.3175A>G | NP_001341832.1:p.Thr1059Ala | |
| NM_001354904.2:c.3100A>G | NP_001341833.1:p.Thr1034Ala | |
| NM_001354905.2:c.2998A>G | NP_001341834.1:p.Thr1000Ala | |
| NM_001354906.2:c.2629A>G | NP_001341835.1:p.Thr877Ala |