Linked Data
ClinVar Variation Id:
716588
dbSNP Id:
rs373625999
ExAC:
11:118373906 A / G
gnomAD v2:
11-118373906-A-G
gnomAD v3:
11-118503191-A-G
gnomAD v4:
11-118503191-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503191A>G , CM000673.2:g.118503191A>G | GRCh38 |
| NC_000011.9:g.118373906A>G , CM000673.1:g.118373906A>G | GRCh37 |
| NC_000011.8:g.117879116A>G | NCBI36 |
| NG_027813.1:g.71702A>G , LRG_613:g.71702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7398A>G | ENSP00000432391.3:p.Lys2466= | |
| ENST00000710560.1:c.7389A>G | ENSP00000518343.1:p.Lys2463= | |
| ENST00000649878.2:c.1338A>G | ENSP00000497891.2:p.Lys446= | |
| ENST00000685397.1:c.1338A>G | ENSP00000509586.1:p.Lys446= | |
| ENST00000686370.1:c.1338A>G | ENSP00000509179.1:p.Lys446= | |
| ENST00000689424.1:c.1596A>G | ENSP00000509852.1:p.Lys532= | |
| ENST00000691053.1:c.7371A>G | ENSP00000509168.1:p.Lys2457= | |
| ENST00000389506.10:c.7290A>G | ENSP00000374157.5:p.Lys2430= | |
| ENST00000528278.2:n.6641A>G | ||
| ENST00000534358.8:c.7299A>G MANE Select | ENSP00000436786.2:p.Lys2433= | |
| ENST00000649699.1:c.7176A>G | ENSP00000496927.1:p.Lys2392= | |
| ENST00000389506.9:c.7290A>G | ENSP00000374157.5:p.Lys2430= | |
| ENST00000528278.1:n.1426A>G | ||
| ENST00000534358.5:c.7299A>G | ENSP00000436786.1:p.Lys2433= | |
| NM_001197104.1:c.7299A>G , LRG_613t1:c.7299A>G | NP_001184033.1:p.Lys2433= | |
| NM_005933.3:c.7290A>G | NP_005924.2:p.Lys2430= | |
| XM_006718839.2:c.4782A>G | XP_006718902.2:p.Lys1594= | |
| XM_011542829.1:c.7398A>G | XP_011541131.1:p.Lys2466= | |
| XM_011542830.1:c.7395A>G | XP_011541132.1:p.Lys2465= | |
| XM_011542831.1:c.7389A>G | XP_011541133.1:p.Lys2463= | |
| XM_011542832.1:c.5205A>G | XP_011541134.1:p.Lys1735= | |
| XM_011542833.1:c.4881A>G | XP_011541135.1:p.Lys1627= | |
| XM_006718839.3:c.4782A>G | XP_006718902.2:p.Lys1594= | |
| XM_011542829.2:c.7398A>G | XP_011541131.1:p.Lys2466= | |
| XM_011542830.2:c.7395A>G | XP_011541132.1:p.Lys2465= | |
| XM_011542831.2:c.7389A>G | XP_011541133.1:p.Lys2463= | |
| XM_011542833.2:c.4881A>G | XP_011541135.1:p.Lys1627= | |
| NM_001197104.2:c.7299A>G MANE Select | NP_001184033.1:p.Lys2433= | |
| NM_005933.4:c.7290A>G | NP_005924.2:p.Lys2430= |