Linked Data
ClinVar Variation Id:
201789
dbSNP Id:
rs779428507
ExAC:
11:6629361 C / T
gnomAD v2:
11-6629361-C-T
gnomAD v4:
11-6608131-C-T
COSMIC:
COSM5714331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6608131C>T , CM000673.2:g.6608131C>T | GRCh38 |
| NC_000011.9:g.6629361C>T , CM000673.1:g.6629361C>T | GRCh37 |
| NC_000011.8:g.6585937C>T | NCBI36 |
| NG_029702.1:g.9398C>T , LRG_444:g.9398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299421.9:c.175C>T (ILK) MANE Select | ENSP00000299421.4:p.Arg59Trp | |
| ENST00000299424.9:c.*2791G>A (TAF10) MANE Select | ENSP00000299424.4:n.*2791G>A | |
| ENST00000299421.8:c.175C>T (ILK) | ENSP00000299421.3:p.Arg59Trp | |
| ENST00000396751.6:c.175C>T (ILK) | ENSP00000379975.2:p.Arg59Trp | |
| ENST00000420936.6:c.175C>T (ILK) | ENSP00000403487.2:p.Arg59Trp | |
| ENST00000524735.1:n.461C>T (ILK) | ||
| ENST00000526114.5:c.*155C>T (ILK) | ENSP00000432617.1:n.*155C>T | |
| ENST00000526318.2:c.151C>T (ILK) | ENSP00000480597.1:p.Arg51Trp | |
| ENST00000526711.5:c.90-263C>T (ILK) | ENSP00000479932.1:n.90-263C>T | |
| ENST00000527121.5:c.*155C>T (ILK) | ENSP00000436062.1:n.*155C>T | |
| ENST00000528995.5:c.175C>T (ILK) | ENSP00000435323.1:p.Arg59Trp | |
| ENST00000530016.5:n.316C>T (ILK) | ||
| ENST00000532063.5:c.-147-263C>T (ILK) | ENSP00000434492.2:n.-147-263C>T | |
| ENST00000537806.5:c.175C>T (ILK) | ENSP00000439606.2:p.Arg59Trp | |
| ENST00000616342.1:n.3557G>A (TAF10) | ||
| NM_001014794.2:c.175C>T (ILK) | NP_001014794.1:p.Arg59Trp | |
| NM_001014795.2:c.175C>T (ILK) | NP_001014795.1:p.Arg59Trp | |
| NM_001278441.1:c.175C>T (ILK) | NP_001265370.1:p.Arg59Trp | |
| NM_001278442.1:c.-147-263C>T (ILK) | NP_001265371.1:n.-147-263C>T | |
| NM_004517.3:c.175C>T (ILK) | NP_004508.1:p.Arg59Trp | |
| XM_005252904.3:c.175C>T (ILK) | XP_005252961.1:p.Arg59Trp | |
| XM_005252905.1:c.-147-263C>T (ILK) | XP_005252962.1:n.-147-263C>T | |
| XM_011520065.1:c.175C>T (ILK) | XP_011518367.1:p.Arg59Trp | |
| XM_005252904.5:c.175C>T (ILK) | XP_005252961.1:p.Arg59Trp | |
| XM_005252905.3:c.-147-263C>T (ILK) | XP_005252962.1:n.-147-263C>T | |
| XM_017017672.1:c.22C>T (ILK) | XP_016873161.1:p.Arg8Trp | |
| XM_024448494.1:c.175C>T (ILK) | XP_024304262.1:p.Arg59Trp | |
| XM_024448495.1:c.175C>T (ILK) | XP_024304263.1:p.Arg59Trp | |
| XM_024448496.1:c.175C>T (ILK) | XP_024304264.1:p.Arg59Trp | |
| XM_024448497.1:c.175C>T (ILK) | XP_024304265.1:p.Arg59Trp | |
| XM_024448498.1:c.22C>T (ILK) | XP_024304266.1:p.Arg8Trp | |
| XM_024448499.1:c.22C>T (ILK) | XP_024304267.1:p.Arg8Trp | |
| XM_024448500.1:c.-147-263C>T (ILK) | XP_024304268.1:n.-147-263C>T | |
| XR_001748110.1:n.263G>A | ||
| NM_006284.4:c.*2791G>A (TAF10) MANE Select | NP_006275.1:n.*2791G>A | |
| NM_001014794.3:c.175C>T (ILK) | NP_001014794.1:p.Arg59Trp | |
| NM_001014795.3:c.175C>T (ILK) | NP_001014795.1:p.Arg59Trp | |
| NM_001278441.2:c.175C>T (ILK) | NP_001265370.1:p.Arg59Trp | |
| NM_004517.4:c.175C>T (ILK) MANE Select | NP_004508.1:p.Arg59Trp | |
| NM_001278442.2:c.-147-263C>T (ILK) | NP_001265371.1:n.-147-263C>T |