Linked Data
ClinVar Variation Id:
141336
dbSNP Id:
rs587781666
ExAC:
17:59761170 A / C
gnomAD v2:
17-59761170-A-C
gnomAD v3:
17-61683809-A-C
gnomAD v4:
17-61683809-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683809A>C , CM000679.2:g.61683809A>C | GRCh38 |
| NC_000017.10:g.59761170A>C , CM000679.1:g.59761170A>C | GRCh37 |
| NC_000017.9:g.57115952A>C | NCBI36 |
| NG_007409.2:g.184751T>G , LRG_300:g.184751T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1977T>G | ||
| ENST00000682453.1:c.3237T>G | ENSP00000506943.1:p.Ile1079Met | |
| ENST00000682477.1:c.*2663T>G | ENSP00000507075.1:n.*2663T>G | |
| ENST00000682589.1:n.9114T>G | ||
| ENST00000682755.1:c.3015T>G | ENSP00000507660.1:p.Ile1005Met | |
| ENST00000682989.1:c.*328T>G | ENSP00000507786.1:n.*328T>G | |
| ENST00000683039.1:c.3237T>G | ENSP00000508303.1:p.Ile1079Met | |
| ENST00000683235.1:c.*652T>G | ENSP00000507646.1:n.*652T>G | |
| ENST00000683535.1:n.1367T>G | ||
| ENST00000684584.1:c.2400T>G | ENSP00000508044.1:p.Ile800Met | |
| ENST00000684626.1:n.1483T>G | ||
| ENST00000684769.1:c.1427T>G | ENSP00000507691.1:n.1427T>G | |
| ENST00000259008.7:c.3237T>G MANE Select | ENSP00000259008.2:p.Ile1079Met | |
| ENST00000259008.6:c.3237T>G | ENSP00000259008.2:p.Ile1079Met | |
| NM_032043.2:c.3237T>G , LRG_300t1:c.3237T>G | NP_114432.2:p.Ile1079Met | |
| XM_011525332.1:c.3297T>G | XP_011523634.1:p.Ile1099Met | |
| XM_011525333.1:c.3297T>G | XP_011523635.1:p.Ile1099Met | |
| XM_011525334.1:c.3297T>G | XP_011523636.1:p.Ile1099Met | |
| XM_011525335.1:c.3237T>G | XP_011523637.1:p.Ile1079Met | |
| XM_011525336.1:c.3177T>G | XP_011523638.1:p.Ile1059Met | |
| XM_011525337.1:c.3096T>G | XP_011523639.1:p.Ile1032Met | |
| XM_011525338.1:c.2814T>G | XP_011523640.1:p.Ile938Met | |
| XM_011525332.3:c.3297T>G | XP_011523634.1:p.Ile1099Met | |
| XM_011525333.3:c.3297T>G | XP_011523635.1:p.Ile1099Met | |
| XM_011525334.2:c.3297T>G | XP_011523636.1:p.Ile1099Met | |
| XM_011525335.3:c.3237T>G | XP_011523637.1:p.Ile1079Met | |
| XM_011525336.2:c.3177T>G | XP_011523638.1:p.Ile1059Met | |
| XM_011525337.2:c.3096T>G | XP_011523639.1:p.Ile1032Met | |
| XM_011525338.2:c.2814T>G | XP_011523640.1:p.Ile938Met | |
| XM_017025200.1:c.2754T>G | XP_016880689.1:p.Ile918Met | |
| XM_017025201.1:c.2754T>G | XP_016880690.1:p.Ile918Met | |
| XM_017025202.1:c.1383T>G | XP_016880691.1:p.Ile461Met | |
| XM_017025203.1:c.1383T>G | XP_016880692.1:p.Ile461Met | |
| NM_032043.3:c.3237T>G MANE Select | NP_114432.2:p.Ile1079Met |