Linked Data
ClinVar Variation Id:
142346
ClinVar RCV Id:
RCV000131421
RCV000234751
RCV000410875
RCV000409672
RCV000759709
RCV000989996
RCV003479018
dbSNP Id:
rs142806416
ExAC:
17:59820409 T / C
gnomAD v2:
17-59820409-T-C
gnomAD v3:
17-61743048-T-C
gnomAD v4:
17-61743048-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61743048T>C , CM000679.2:g.61743048T>C | GRCh38 |
| NC_000017.10:g.59820409T>C , CM000679.1:g.59820409T>C | GRCh37 |
| NC_000017.9:g.57175191T>C | NCBI36 |
| NG_007409.2:g.125512A>G , LRG_300:g.125512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584322.2:c.2344A>G | ENSP00000463272.2:p.Ile782Val | |
| ENST00000682066.1:c.2474A>G | ENSP00000507191.1:n.2474A>G | |
| ENST00000682073.1:n.1084A>G | ||
| ENST00000682433.1:n.1423A>G | ||
| ENST00000682453.1:c.2344A>G | ENSP00000506943.1:p.Ile782Val | |
| ENST00000682477.1:c.*1770A>G | ENSP00000507075.1:n.*1770A>G | |
| ENST00000682589.1:n.8221A>G | ||
| ENST00000682755.1:c.2122A>G | ENSP00000507660.1:p.Ile708Val | |
| ENST00000682989.1:c.2344A>G | ENSP00000507786.1:p.Ile782Val | |
| ENST00000683039.1:c.2344A>G | ENSP00000508303.1:p.Ile782Val | |
| ENST00000683235.1:c.2344A>G | ENSP00000507646.1:p.Ile782Val | |
| ENST00000683381.1:c.2404A>G | ENSP00000508184.1:p.Ile802Val | |
| ENST00000683535.1:n.474A>G | ||
| ENST00000684471.1:n.757A>G | ||
| ENST00000684584.1:c.1837A>G | ENSP00000508044.1:p.Ile613Val | |
| ENST00000684769.1:c.409A>G | ENSP00000507691.1:p.Ile137Val | |
| ENST00000259008.7:c.2344A>G MANE Select | ENSP00000259008.2:p.Ile782Val | |
| ENST00000259008.6:c.2344A>G | ENSP00000259008.2:p.Ile782Val | |
| ENST00000577598.5:c.2344A>G | ENSP00000464654.1:p.Ile782Val | |
| ENST00000584322.1:c.327A>G | ||
| NM_032043.2:c.2344A>G , LRG_300t1:c.2344A>G | NP_114432.2:p.Ile782Val | |
| XM_011525332.1:c.2404A>G | XP_011523634.1:p.Ile802Val | |
| XM_011525333.1:c.2404A>G | XP_011523635.1:p.Ile802Val | |
| XM_011525334.1:c.2404A>G | XP_011523636.1:p.Ile802Val | |
| XM_011525335.1:c.2344A>G | XP_011523637.1:p.Ile782Val | |
| XM_011525336.1:c.2284A>G | XP_011523638.1:p.Ile762Val | |
| XM_011525337.1:c.2203A>G | XP_011523639.1:p.Ile735Val | |
| XM_011525338.1:c.1921A>G | XP_011523640.1:p.Ile641Val | |
| XM_011525339.1:c.2404A>G | XP_011523641.1:p.Ile802Val | |
| XM_011525340.1:c.2404A>G | XP_011523642.1:p.Ile802Val | |
| XR_934894.1:n.524-1133T>C | ||
| XM_011525332.3:c.2404A>G | XP_011523634.1:p.Ile802Val | |
| XM_011525333.3:c.2404A>G | XP_011523635.1:p.Ile802Val | |
| XM_011525334.2:c.2404A>G | XP_011523636.1:p.Ile802Val | |
| XM_011525335.3:c.2344A>G | XP_011523637.1:p.Ile782Val | |
| XM_011525336.2:c.2284A>G | XP_011523638.1:p.Ile762Val | |
| XM_011525337.2:c.2203A>G | XP_011523639.1:p.Ile735Val | |
| XM_011525338.2:c.1921A>G | XP_011523640.1:p.Ile641Val | |
| XM_011525339.3:c.2404A>G | XP_011523641.1:p.Ile802Val | |
| XM_011525340.3:c.2404A>G | XP_011523642.1:p.Ile802Val | |
| XM_017025200.1:c.1861A>G | XP_016880689.1:p.Ile621Val | |
| XM_017025201.1:c.1861A>G | XP_016880690.1:p.Ile621Val | |
| XM_017025202.1:c.490A>G | XP_016880691.1:p.Ile164Val | |
| XM_017025203.1:c.490A>G | XP_016880692.1:p.Ile164Val | |
| NM_032043.3:c.2344A>G MANE Select | NP_114432.2:p.Ile782Val |