Linked Data
ClinVar Variation Id:
184964
dbSNP Id:
rs766047812
ExAC:
17:59821950 T / C
gnomAD v2:
17-59821950-T-C
gnomAD v3:
17-61744589-T-C
gnomAD v4:
17-61744589-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61744589T>C , CM000679.2:g.61744589T>C | GRCh38 |
| NC_000017.10:g.59821950T>C , CM000679.1:g.59821950T>C | GRCh37 |
| NC_000017.9:g.57176732T>C | NCBI36 |
| NG_007409.2:g.123971A>G , LRG_300:g.123971A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1682A>G | ENSP00000463827.2:n.1682A>G | |
| ENST00000584322.2:c.2100A>G | ENSP00000463272.2:p.Leu700= | |
| ENST00000682066.1:c.2230A>G | ENSP00000507191.1:n.2230A>G | |
| ENST00000682073.1:n.840A>G | ||
| ENST00000682433.1:n.1179A>G | ||
| ENST00000682453.1:c.2100A>G | ENSP00000506943.1:p.Leu700= | |
| ENST00000682477.1:c.*1526A>G | ENSP00000507075.1:n.*1526A>G | |
| ENST00000682589.1:n.7977A>G | ||
| ENST00000682755.1:c.1878A>G | ENSP00000507660.1:p.Leu626= | |
| ENST00000682989.1:c.2100A>G | ENSP00000507786.1:p.Leu700= | |
| ENST00000683039.1:c.2100A>G | ENSP00000508303.1:p.Leu700= | |
| ENST00000683235.1:c.2100A>G | ENSP00000507646.1:p.Leu700= | |
| ENST00000683381.1:c.2160A>G | ENSP00000508184.1:p.Leu720= | |
| ENST00000683535.1:n.230A>G | ||
| ENST00000684471.1:n.513A>G | ||
| ENST00000684584.1:c.1593A>G | ENSP00000508044.1:p.Leu531= | |
| ENST00000684769.1:c.165A>G | ENSP00000507691.1:p.Leu55= | |
| ENST00000259008.7:c.2100A>G MANE Select | ENSP00000259008.2:p.Leu700= | |
| ENST00000259008.6:c.2100A>G | ENSP00000259008.2:p.Leu700= | |
| ENST00000577598.5:c.2100A>G | ENSP00000464654.1:p.Leu700= | |
| ENST00000584322.1:c.83A>G | ||
| NM_032043.2:c.2100A>G , LRG_300t1:c.2100A>G | NP_114432.2:p.Leu700= | |
| XM_011525332.1:c.2160A>G | XP_011523634.1:p.Leu720= | |
| XM_011525333.1:c.2160A>G | XP_011523635.1:p.Leu720= | |
| XM_011525334.1:c.2160A>G | XP_011523636.1:p.Leu720= | |
| XM_011525335.1:c.2100A>G | XP_011523637.1:p.Leu700= | |
| XM_011525336.1:c.2040A>G | XP_011523638.1:p.Leu680= | |
| XM_011525337.1:c.1959A>G | XP_011523639.1:p.Leu653= | |
| XM_011525338.1:c.1677A>G | XP_011523640.1:p.Leu559= | |
| XM_011525339.1:c.2160A>G | XP_011523641.1:p.Leu720= | |
| XM_011525340.1:c.2160A>G | XP_011523642.1:p.Leu720= | |
| XM_011525332.3:c.2160A>G | XP_011523634.1:p.Leu720= | |
| XM_011525333.3:c.2160A>G | XP_011523635.1:p.Leu720= | |
| XM_011525334.2:c.2160A>G | XP_011523636.1:p.Leu720= | |
| XM_011525335.3:c.2100A>G | XP_011523637.1:p.Leu700= | |
| XM_011525336.2:c.2040A>G | XP_011523638.1:p.Leu680= | |
| XM_011525337.2:c.1959A>G | XP_011523639.1:p.Leu653= | |
| XM_011525338.2:c.1677A>G | XP_011523640.1:p.Leu559= | |
| XM_011525339.3:c.2160A>G | XP_011523641.1:p.Leu720= | |
| XM_011525340.3:c.2160A>G | XP_011523642.1:p.Leu720= | |
| XM_017025200.1:c.1617A>G | XP_016880689.1:p.Leu539= | |
| XM_017025201.1:c.1617A>G | XP_016880690.1:p.Leu539= | |
| XM_017025202.1:c.246A>G | XP_016880691.1:p.Leu82= | |
| XM_017025203.1:c.246A>G | XP_016880692.1:p.Leu82= | |
| NM_032043.3:c.2100A>G MANE Select | NP_114432.2:p.Leu700= |