Linked Data
ClinVar Variation Id:
407876
dbSNP Id:
rs1060501781
gnomAD v2:
17-59763397-A-G
gnomAD v3:
17-61686036-A-G
gnomAD v4:
17-61686036-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61686036A>G , CM000679.2:g.61686036A>G | GRCh38 |
| NC_000017.10:g.59763397A>G , CM000679.1:g.59763397A>G | GRCh37 |
| NC_000017.9:g.57118179A>G | NCBI36 |
| NG_007409.2:g.182524T>C , LRG_300:g.182524T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2835T>C | ENSP00000507191.1:n.2835T>C | |
| ENST00000682073.1:n.1445T>C | ||
| ENST00000682433.1:n.1784T>C | ||
| ENST00000682453.1:c.2705T>C | ENSP00000506943.1:p.Ile902Thr | |
| ENST00000682477.1:c.*2131T>C | ENSP00000507075.1:n.*2131T>C | |
| ENST00000682589.1:n.8582T>C | ||
| ENST00000682755.1:c.2483T>C | ENSP00000507660.1:p.Ile828Thr | |
| ENST00000682989.1:c.2610-1896T>C | ENSP00000507786.1:n.2610-1896T>C | |
| ENST00000683039.1:c.2705T>C | ENSP00000508303.1:p.Ile902Thr | |
| ENST00000683235.1:c.*120T>C | ENSP00000507646.1:n.*120T>C | |
| ENST00000683535.1:n.835T>C | ||
| ENST00000684471.1:n.1118T>C | ||
| ENST00000684584.1:c.2069-1896T>C | ENSP00000508044.1:n.2069-1896T>C | |
| ENST00000684626.1:n.951T>C | ||
| ENST00000684769.1:c.895T>C | ENSP00000507691.1:n.895T>C | |
| ENST00000259008.7:c.2705T>C MANE Select | ENSP00000259008.2:p.Ile902Thr | |
| ENST00000259008.6:c.2705T>C | ENSP00000259008.2:p.Ile902Thr | |
| ENST00000577598.5:c.2705T>C | ENSP00000464654.1:p.Ile902Thr | |
| NM_032043.2:c.2705T>C , LRG_300t1:c.2705T>C | NP_114432.2:p.Ile902Thr | |
| XM_011525332.1:c.2765T>C | XP_011523634.1:p.Ile922Thr | |
| XM_011525333.1:c.2765T>C | XP_011523635.1:p.Ile922Thr | |
| XM_011525334.1:c.2765T>C | XP_011523636.1:p.Ile922Thr | |
| XM_011525335.1:c.2705T>C | XP_011523637.1:p.Ile902Thr | |
| XM_011525336.1:c.2645T>C | XP_011523638.1:p.Ile882Thr | |
| XM_011525337.1:c.2564T>C | XP_011523639.1:p.Ile855Thr | |
| XM_011525338.1:c.2282T>C | XP_011523640.1:p.Ile761Thr | |
| XM_011525332.3:c.2765T>C | XP_011523634.1:p.Ile922Thr | |
| XM_011525333.3:c.2765T>C | XP_011523635.1:p.Ile922Thr | |
| XM_011525334.2:c.2765T>C | XP_011523636.1:p.Ile922Thr | |
| XM_011525335.3:c.2705T>C | XP_011523637.1:p.Ile902Thr | |
| XM_011525336.2:c.2645T>C | XP_011523638.1:p.Ile882Thr | |
| XM_011525337.2:c.2564T>C | XP_011523639.1:p.Ile855Thr | |
| XM_011525338.2:c.2282T>C | XP_011523640.1:p.Ile761Thr | |
| XM_017025200.1:c.2222T>C | XP_016880689.1:p.Ile741Thr | |
| XM_017025201.1:c.2222T>C | XP_016880690.1:p.Ile741Thr | |
| XM_017025202.1:c.851T>C | XP_016880691.1:p.Ile284Thr | |
| XM_017025203.1:c.851T>C | XP_016880692.1:p.Ile284Thr | |
| NM_032043.3:c.2705T>C MANE Select | NP_114432.2:p.Ile902Thr |