Linked Data
ClinVar Variation Id:
241650
dbSNP Id:
rs761225576
ExAC:
17:59761285 A / G
gnomAD v2:
17-59761285-A-G
gnomAD v4:
17-61683924-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683924A>G , CM000679.2:g.61683924A>G | GRCh38 |
| NC_000017.10:g.59761285A>G , CM000679.1:g.59761285A>G | GRCh37 |
| NC_000017.9:g.57116067A>G | NCBI36 |
| NG_007409.2:g.184636T>C , LRG_300:g.184636T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1862T>C | ||
| ENST00000682453.1:c.3122T>C | ENSP00000506943.1:p.Met1041Thr | |
| ENST00000682477.1:c.*2548T>C | ENSP00000507075.1:n.*2548T>C | |
| ENST00000682589.1:n.8999T>C | ||
| ENST00000682755.1:c.2900T>C | ENSP00000507660.1:p.Met967Thr | |
| ENST00000682989.1:c.*213T>C | ENSP00000507786.1:n.*213T>C | |
| ENST00000683039.1:c.3122T>C | ENSP00000508303.1:p.Met1041Thr | |
| ENST00000683235.1:c.*537T>C | ENSP00000507646.1:n.*537T>C | |
| ENST00000683535.1:n.1252T>C | ||
| ENST00000684584.1:c.2285T>C | ENSP00000508044.1:p.Met762Thr | |
| ENST00000684626.1:n.1368T>C | ||
| ENST00000684769.1:c.1312T>C | ENSP00000507691.1:n.1312T>C | |
| ENST00000259008.7:c.3122T>C MANE Select | ENSP00000259008.2:p.Met1041Thr | |
| ENST00000259008.6:c.3122T>C | ENSP00000259008.2:p.Met1041Thr | |
| NM_032043.2:c.3122T>C , LRG_300t1:c.3122T>C | NP_114432.2:p.Met1041Thr | |
| XM_011525332.1:c.3182T>C | XP_011523634.1:p.Met1061Thr | |
| XM_011525333.1:c.3182T>C | XP_011523635.1:p.Met1061Thr | |
| XM_011525334.1:c.3182T>C | XP_011523636.1:p.Met1061Thr | |
| XM_011525335.1:c.3122T>C | XP_011523637.1:p.Met1041Thr | |
| XM_011525336.1:c.3062T>C | XP_011523638.1:p.Met1021Thr | |
| XM_011525337.1:c.2981T>C | XP_011523639.1:p.Met994Thr | |
| XM_011525338.1:c.2699T>C | XP_011523640.1:p.Met900Thr | |
| XM_011525332.3:c.3182T>C | XP_011523634.1:p.Met1061Thr | |
| XM_011525333.3:c.3182T>C | XP_011523635.1:p.Met1061Thr | |
| XM_011525334.2:c.3182T>C | XP_011523636.1:p.Met1061Thr | |
| XM_011525335.3:c.3122T>C | XP_011523637.1:p.Met1041Thr | |
| XM_011525336.2:c.3062T>C | XP_011523638.1:p.Met1021Thr | |
| XM_011525337.2:c.2981T>C | XP_011523639.1:p.Met994Thr | |
| XM_011525338.2:c.2699T>C | XP_011523640.1:p.Met900Thr | |
| XM_017025200.1:c.2639T>C | XP_016880689.1:p.Met880Thr | |
| XM_017025201.1:c.2639T>C | XP_016880690.1:p.Met880Thr | |
| XM_017025202.1:c.1268T>C | XP_016880691.1:p.Met423Thr | |
| XM_017025203.1:c.1268T>C | XP_016880692.1:p.Met423Thr | |
| NM_032043.3:c.3122T>C MANE Select | NP_114432.2:p.Met1041Thr |