Linked Data
dbSNP Id:
rs12288956
ExAC:
11:6631126 A / G
gnomAD v2:
11-6631126-A-G
gnomAD v3:
11-6609895-A-G
gnomAD v4:
11-6609895-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6609895A>G , CM000673.2:g.6609895A>G | GRCh38 |
| NC_000011.9:g.6631126A>G , CM000673.1:g.6631126A>G | GRCh37 |
| NC_000011.8:g.6587702A>G | NCBI36 |
| NG_029702.1:g.11163A>G , LRG_444:g.11163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299421.9:c.979-41A>G (ILK) MANE Select | ENSP00000299421.4:n.979-41A>G | |
| ENST00000299424.9:c.*1027T>C (TAF10) MANE Select | ENSP00000299424.4:n.*1027T>C | |
| ENST00000299421.8:c.979-41A>G (ILK) | ENSP00000299421.3:n.979-41A>G | |
| ENST00000396751.6:c.979-41A>G (ILK) | ENSP00000379975.2:n.979-41A>G | |
| ENST00000420936.6:c.979-41A>G (ILK) | ENSP00000403487.2:n.979-41A>G | |
| ENST00000526318.2:c.328-708A>G (ILK) | ENSP00000480597.1:n.328-708A>G | |
| ENST00000526711.5:c.*690-41A>G (ILK) | ENSP00000479932.1:n.*690-41A>G | |
| ENST00000528784.5:n.852-41A>G (ILK) | ||
| ENST00000528995.5:c.796-41A>G (ILK) | ENSP00000435323.1:n.796-41A>G | |
| ENST00000530016.5:n.1316-41A>G (ILK) | ||
| ENST00000532063.5:c.577-41A>G (ILK) | ENSP00000434492.2:n.577-41A>G | |
| ENST00000537806.5:c.1072-41A>G (ILK) | ENSP00000439606.2:n.1072-41A>G | |
| ENST00000616342.1:n.1793T>C (TAF10) | ||
| NM_001014794.2:c.979-41A>G (ILK) | NP_001014794.1:n.979-41A>G | |
| NM_001014795.2:c.979-41A>G (ILK) | NP_001014795.1:n.979-41A>G | |
| NM_001278441.1:c.796-41A>G (ILK) | NP_001265370.1:n.796-41A>G | |
| NM_001278442.1:c.577-41A>G (ILK) | NP_001265371.1:n.577-41A>G | |
| NM_004517.3:c.979-41A>G (ILK) | NP_004508.1:n.979-41A>G | |
| XM_005252904.3:c.979-41A>G (ILK) | XP_005252961.1:n.979-41A>G | |
| XM_005252905.1:c.577-41A>G (ILK) | XP_005252962.1:n.577-41A>G | |
| XM_011520065.1:c.979-41A>G (ILK) | XP_011518367.1:n.979-41A>G | |
| XM_005252904.5:c.979-41A>G (ILK) | XP_005252961.1:n.979-41A>G | |
| XM_005252905.3:c.577-41A>G (ILK) | XP_005252962.1:n.577-41A>G | |
| XM_017017672.1:c.826-41A>G (ILK) | XP_016873161.1:n.826-41A>G | |
| XM_024448494.1:c.1072-41A>G (ILK) | XP_024304262.1:n.1072-41A>G | |
| XM_024448495.1:c.1072-41A>G (ILK) | XP_024304263.1:n.1072-41A>G | |
| XM_024448496.1:c.1072-41A>G (ILK) | XP_024304264.1:n.1072-41A>G | |
| XM_024448497.1:c.1072-41A>G (ILK) | XP_024304265.1:n.1072-41A>G | |
| XM_024448498.1:c.826-41A>G (ILK) | XP_024304266.1:n.826-41A>G | |
| XM_024448499.1:c.826-41A>G (ILK) | XP_024304267.1:n.826-41A>G | |
| XM_024448500.1:c.670-41A>G (ILK) | XP_024304268.1:n.670-41A>G | |
| NM_006284.4:c.*1027T>C (TAF10) MANE Select | NP_006275.1:n.*1027T>C | |
| NM_001014794.3:c.979-41A>G (ILK) | NP_001014794.1:n.979-41A>G | |
| NM_001014795.3:c.979-41A>G (ILK) | NP_001014795.1:n.979-41A>G | |
| NM_001278441.2:c.796-41A>G (ILK) | NP_001265370.1:n.796-41A>G | |
| NM_004517.4:c.979-41A>G (ILK) MANE Select | NP_004508.1:n.979-41A>G | |
| NM_001278442.2:c.577-41A>G (ILK) | NP_001265371.1:n.577-41A>G |