Linked Data
ClinVar Variation Id:
805253
dbSNP Id:
rs143912759
gnomAD v2:
1-227081774-C-T
gnomAD v3:
1-226894073-C-T
gnomAD v4:
1-226894073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226894073C>T , CM000663.2:g.226894073C>T | GRCh38 |
| NC_000001.10:g.227081774C>T , CM000663.1:g.227081774C>T | GRCh37 |
| NC_000001.9:g.225148397C>T | NCBI36 |
| NG_007381.1:g.28502C>T | |
| NG_012825.2:g.1538C>T | |
| NG_007381.2:g.28890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.1139C>T | ENSP00000355741.2:p.Thr380Met | |
| ENST00000366782.6:c.1139C>T | ENSP00000355746.2:p.Thr380Met | |
| ENST00000366783.8:c.1139C>T MANE Select | ENSP00000355747.3:p.Thr380Met | |
| ENST00000471728.2:n.1777C>T | ||
| ENST00000524196.6:c.1139C>T | ENSP00000429036.2:p.Thr380Met | |
| ENST00000626989.3:c.1139C>T | ENSP00000486498.2:p.Thr380Met | |
| ENST00000676467.1:c.*966C>T | ENSP00000504294.1:n.*966C>T | |
| ENST00000676747.1:c.1136C>T | ENSP00000503244.1:p.Thr379Met | |
| ENST00000676884.1:c.1139C>T | ENSP00000503200.1:p.Thr380Met | |
| ENST00000676888.1:c.*480C>T | ENSP00000504483.1:n.*480C>T | |
| ENST00000676907.1:c.*718C>T | ENSP00000504410.1:n.*718C>T | |
| ENST00000676945.1:c.1139C>T | ENSP00000504433.1:p.Thr380Met | |
| ENST00000677065.1:n.1700C>T | ||
| ENST00000677414.1:c.1139C>T | ENSP00000503116.1:p.Thr380Met | |
| ENST00000677529.1:n.2869C>T | ||
| ENST00000677596.1:c.*1361C>T | ENSP00000503618.1:n.*1361C>T | |
| ENST00000677599.1:c.1139C>T | ENSP00000503673.1:p.Thr380Met | |
| ENST00000677748.1:n.3394C>T | ||
| ENST00000677880.1:c.704C>T | ENSP00000503121.1:p.Thr235Met | |
| ENST00000678021.1:c.*762C>T | ENSP00000504674.1:n.*762C>T | |
| ENST00000678233.1:c.1139C>T | ENSP00000504728.1:p.Thr380Met | |
| ENST00000678320.1:c.1040C>T | ENSP00000503680.1:p.Thr347Met | |
| ENST00000678655.1:c.1040C>T | ENSP00000504230.1:p.Thr347Met | |
| ENST00000678706.1:c.*516C>T | ENSP00000503659.1:n.*516C>T | |
| ENST00000678776.1:c.*1276C>T | ENSP00000504624.1:n.*1276C>T | |
| ENST00000678784.1:c.1072+2229C>T | ENSP00000504652.1:n.1072+2229C>T | |
| ENST00000678820.1:c.1037C>T | ENSP00000504138.1:p.Thr346Met | |
| ENST00000678835.1:c.*756+2229C>T | ENSP00000504343.1:n.*756+2229C>T | |
| ENST00000679088.1:c.1139C>T | ENSP00000504727.1:p.Thr380Met | |
| ENST00000679098.1:c.1139C>T | ENSP00000504303.1:p.Thr380Met | |
| ENST00000366782.5:c.1238C>T | ENSP00000355746.1:p.Thr413Met | |
| ENST00000366783.7:c.1139C>T | ENSP00000355747.3:p.Thr380Met | |
| ENST00000422240.6:c.1136C>T | ENSP00000403737.2:p.Thr379Met | |
| ENST00000471728.1:n.397C>T | ||
| ENST00000472139.2:c.707C>T | ENSP00000427806.1:p.Thr236Met | |
| ENST00000626989.2:c.1238C>T | ENSP00000486498.1:p.Thr413Met | |
| NM_000447.2:c.1139C>T | NP_000438.2:p.Thr380Met | |
| NM_012486.2:c.1136C>T | NP_036618.2:p.Thr379Met | |
| XM_005273199.2:c.1139C>T | XP_005273256.1:p.Thr380Met | |
| XM_011544236.1:c.707C>T | XP_011542538.1:p.Thr236Met | |
| XR_949149.1:n.1873C>T | ||
| XM_005273199.4:c.1139C>T | XP_005273256.1:p.Thr380Met | |
| XM_017001835.1:c.1139C>T | XP_016857324.1:p.Thr380Met | |
| XM_017001836.1:c.1136C>T | XP_016857325.1:p.Thr379Met | |
| XR_001737316.2:n.1477+2229C>T | ||
| XR_001737317.2:n.1477+2229C>T | ||
| XR_001737318.2:n.1854C>T | ||
| XR_001737319.1:n.2197C>T | ||
| XR_001737320.1:n.2194C>T | ||
| XR_001737321.1:n.1689C>T | ||
| XR_949149.2:n.1851C>T | ||
| XR_949150.3:n.2070C>T | ||
| NM_000447.3:c.1139C>T MANE Select | NP_000438.2:p.Thr380Met | |
| NM_012486.3:c.1136C>T | NP_036618.2:p.Thr379Met |