Linked Data
ClinVar Variation Id:
2903788
ClinVar RCV Id:
RCV003726910
dbSNP Id:
rs782539624
ExAC:
11:118374259 T / G
gnomAD v2:
11-118374259-T-G
gnomAD v3:
11-118503544-T-G
gnomAD v4:
11-118503544-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503544T>G , CM000673.2:g.118503544T>G | GRCh38 |
| NC_000011.9:g.118374259T>G , CM000673.1:g.118374259T>G | GRCh37 |
| NC_000011.8:g.117879469T>G | NCBI36 |
| NG_027813.1:g.72055T>G , LRG_613:g.72055T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7751T>G | ENSP00000432391.3:p.Leu2584Trp | |
| ENST00000710560.1:c.7742T>G | ENSP00000518343.1:p.Leu2581Trp | |
| ENST00000649878.2:c.1691T>G | ENSP00000497891.2:p.Leu564Trp | |
| ENST00000685397.1:c.1691T>G | ENSP00000509586.1:p.Leu564Trp | |
| ENST00000686370.1:c.1691T>G | ENSP00000509179.1:p.Leu564Trp | |
| ENST00000689424.1:c.1949T>G | ENSP00000509852.1:p.Leu650Trp | |
| ENST00000691053.1:c.7724T>G | ENSP00000509168.1:p.Leu2575Trp | |
| ENST00000389506.10:c.7643T>G | ENSP00000374157.5:p.Leu2548Trp | |
| ENST00000528278.2:n.6994T>G | ||
| ENST00000534358.8:c.7652T>G MANE Select | ENSP00000436786.2:p.Leu2551Trp | |
| ENST00000649699.1:c.7529T>G | ENSP00000496927.1:p.Leu2510Trp | |
| ENST00000389506.9:c.7643T>G | ENSP00000374157.5:p.Leu2548Trp | |
| ENST00000528278.1:n.1779T>G | ||
| ENST00000534358.5:c.7652T>G | ENSP00000436786.1:p.Leu2551Trp | |
| NM_001197104.1:c.7652T>G , LRG_613t1:c.7652T>G | NP_001184033.1:p.Leu2551Trp | |
| NM_005933.3:c.7643T>G | NP_005924.2:p.Leu2548Trp | |
| XM_006718839.2:c.5135T>G | XP_006718902.2:p.Leu1712Trp | |
| XM_011542829.1:c.7751T>G | XP_011541131.1:p.Leu2584Trp | |
| XM_011542830.1:c.7748T>G | XP_011541132.1:p.Leu2583Trp | |
| XM_011542831.1:c.7742T>G | XP_011541133.1:p.Leu2581Trp | |
| XM_011542832.1:c.5558T>G | XP_011541134.1:p.Leu1853Trp | |
| XM_011542833.1:c.5234T>G | XP_011541135.1:p.Leu1745Trp | |
| XM_006718839.3:c.5135T>G | XP_006718902.2:p.Leu1712Trp | |
| XM_011542829.2:c.7751T>G | XP_011541131.1:p.Leu2584Trp | |
| XM_011542830.2:c.7748T>G | XP_011541132.1:p.Leu2583Trp | |
| XM_011542831.2:c.7742T>G | XP_011541133.1:p.Leu2581Trp | |
| XM_011542833.2:c.5234T>G | XP_011541135.1:p.Leu1745Trp | |
| NM_001197104.2:c.7652T>G MANE Select | NP_001184033.1:p.Leu2551Trp | |
| NM_005933.4:c.7643T>G | NP_005924.2:p.Leu2548Trp |