Linked Data
ClinVar Variation Id:
1917109
ClinVar RCV Id:
RCV002598012
dbSNP Id:
rs781871965
ExAC:
11:118374034 A / G
gnomAD v2:
11-118374034-A-G
gnomAD v3:
11-118503319-A-G
gnomAD v4:
11-118503319-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503319A>G , CM000673.2:g.118503319A>G | GRCh38 |
| NC_000011.9:g.118374034A>G , CM000673.1:g.118374034A>G | GRCh37 |
| NC_000011.8:g.117879244A>G | NCBI36 |
| NG_027813.1:g.71830A>G , LRG_613:g.71830A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7526A>G | ENSP00000432391.3:p.Tyr2509Cys | |
| ENST00000710560.1:c.7517A>G | ENSP00000518343.1:p.Tyr2506Cys | |
| ENST00000649878.2:c.1466A>G | ENSP00000497891.2:p.Tyr489Cys | |
| ENST00000685397.1:c.1466A>G | ENSP00000509586.1:p.Tyr489Cys | |
| ENST00000686370.1:c.1466A>G | ENSP00000509179.1:p.Tyr489Cys | |
| ENST00000689424.1:c.1724A>G | ENSP00000509852.1:p.Tyr575Cys | |
| ENST00000691053.1:c.7499A>G | ENSP00000509168.1:p.Tyr2500Cys | |
| ENST00000389506.10:c.7418A>G | ENSP00000374157.5:p.Tyr2473Cys | |
| ENST00000528278.2:n.6769A>G | ||
| ENST00000534358.8:c.7427A>G MANE Select | ENSP00000436786.2:p.Tyr2476Cys | |
| ENST00000649699.1:c.7304A>G | ENSP00000496927.1:p.Tyr2435Cys | |
| ENST00000389506.9:c.7418A>G | ENSP00000374157.5:p.Tyr2473Cys | |
| ENST00000528278.1:n.1554A>G | ||
| ENST00000534358.5:c.7427A>G | ENSP00000436786.1:p.Tyr2476Cys | |
| NM_001197104.1:c.7427A>G , LRG_613t1:c.7427A>G | NP_001184033.1:p.Tyr2476Cys | |
| NM_005933.3:c.7418A>G | NP_005924.2:p.Tyr2473Cys | |
| XM_006718839.2:c.4910A>G | XP_006718902.2:p.Tyr1637Cys | |
| XM_011542829.1:c.7526A>G | XP_011541131.1:p.Tyr2509Cys | |
| XM_011542830.1:c.7523A>G | XP_011541132.1:p.Tyr2508Cys | |
| XM_011542831.1:c.7517A>G | XP_011541133.1:p.Tyr2506Cys | |
| XM_011542832.1:c.5333A>G | XP_011541134.1:p.Tyr1778Cys | |
| XM_011542833.1:c.5009A>G | XP_011541135.1:p.Tyr1670Cys | |
| XM_006718839.3:c.4910A>G | XP_006718902.2:p.Tyr1637Cys | |
| XM_011542829.2:c.7526A>G | XP_011541131.1:p.Tyr2509Cys | |
| XM_011542830.2:c.7523A>G | XP_011541132.1:p.Tyr2508Cys | |
| XM_011542831.2:c.7517A>G | XP_011541133.1:p.Tyr2506Cys | |
| XM_011542833.2:c.5009A>G | XP_011541135.1:p.Tyr1670Cys | |
| NM_001197104.2:c.7427A>G MANE Select | NP_001184033.1:p.Tyr2476Cys | |
| NM_005933.4:c.7418A>G | NP_005924.2:p.Tyr2473Cys |