Linked Data
ClinVar Variation Id:
222489
dbSNP Id:
rs143283097
ExAC:
7:91713963 A / G
gnomAD v2:
7-91713963-A-G
gnomAD v3:
7-92084649-A-G
gnomAD v4:
7-92084649-A-G
PubMed:
PMID:26230511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92084649A>G , CM000669.2:g.92084649A>G | GRCh38 |
| NC_000007.13:g.91713963A>G , CM000669.1:g.91713963A>G | GRCh37 |
| NC_000007.12:g.91551899A>G | NCBI36 |
| NG_011623.1:g.148775A>G , LRG_331:g.148775A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.8656A>G MANE Select | ENSP00000348573.3:p.Ile2886Val | |
| ENST00000359028.7:c.8728A>G | ENSP00000351922.4:p.Ile2910Val | |
| ENST00000394534.7:c.2149A>G | ENSP00000378042.3:p.Ile717Val | |
| ENST00000435423.2:n.496A>G | ||
| ENST00000491695.2:c.3301A>G | ENSP00000494626.2:p.Ile1101Val | |
| ENST00000679448.1:c.8632A>G | ENSP00000505889.1:p.Ile2878Val | |
| ENST00000679457.1:c.8632A>G | ENSP00000505450.1:p.Ile2878Val | |
| ENST00000679474.1:n.8854A>G | ||
| ENST00000679521.1:c.8602A>G | ENSP00000505456.1:p.Ile2868Val | |
| ENST00000679722.1:n.8878A>G | ||
| ENST00000679821.1:c.8398A>G | ENSP00000506040.1:p.Ile2800Val | |
| ENST00000680047.1:n.8854A>G | ||
| ENST00000680072.1:c.8479A>G | ENSP00000506581.1:p.Ile2827Val | |
| ENST00000680181.1:c.8563A>G | ENSP00000505548.1:p.Ile2855Val | |
| ENST00000680365.1:c.2149A>G | ENSP00000506019.1:p.Ile717Val | |
| ENST00000680513.1:c.8515A>G | ENSP00000505284.1:p.Ile2839Val | |
| ENST00000680534.1:c.8695A>G | ENSP00000506674.1:p.Ile2899Val | |
| ENST00000680766.1:c.8632A>G | ENSP00000505204.1:p.Ile2878Val | |
| ENST00000680952.1:c.8632A>G | ENSP00000506407.1:p.Ile2878Val | |
| ENST00000681216.1:c.1993A>G | ENSP00000505551.1:p.Ile665Val | |
| ENST00000681412.1:c.8656A>G | ENSP00000506486.1:p.Ile2886Val | |
| ENST00000681722.1:c.8632A>G | ENSP00000506566.1:p.Ile2878Val | |
| ENST00000356239.7:c.8656A>G | ENSP00000348573.3:p.Ile2886Val | |
| ENST00000358100.6:c.8515A>G | ENSP00000350813.3:p.Ile2839Val | |
| ENST00000359028.6:c.8720-170A>G | ENSP00000351922.3:n.8720-170A>G | |
| ENST00000394534.6:c.2194A>G | ENSP00000378042.2:p.Ile732Val | |
| ENST00000435423.1:c.90A>G | ||
| NM_005751.4:c.8656A>G , LRG_331t1:c.8656A>G | NP_005742.4:p.Ile2886Val | |
| NM_147185.2:c.8632A>G | NP_671714.1:p.Ile2878Val | |
| XM_006715827.1:c.8515A>G | XP_006715890.1:p.Ile2839Val | |
| XM_011515709.1:c.8803A>G | XP_011514011.1:p.Ile2935Val | |
| XM_011515710.1:c.8827A>G | XP_011514012.1:p.Ile2943Val | |
| XM_011515711.1:c.8767A>G | XP_011514013.1:p.Ile2923Val | |
| XM_011515712.1:c.8764A>G | XP_011514014.1:p.Ile2922Val | |
| XM_011515713.1:c.8749A>G | XP_011514015.1:p.Ile2917Val | |
| XM_011515714.1:c.8788A>G | XP_011514016.1:p.Ile2930Val | |
| XM_011515716.1:c.8707A>G | XP_011514018.1:p.Ile2903Val | |
| XM_011515717.1:c.8662A>G | XP_011514019.1:p.Ile2888Val | |
| XM_011515718.1:c.8692A>G | XP_011514020.1:p.Ile2898Val | |
| XM_011515719.1:c.8668A>G | XP_011514021.1:p.Ile2890Val | |
| XM_011515720.1:c.8551A>G | XP_011514022.1:p.Ile2851Val | |
| XM_011515721.1:c.3316A>G | XP_011514023.1:p.Ile1106Val | |
| XM_011515722.1:c.3277A>G | XP_011514024.1:p.Ile1093Val | |
| XM_017011642.2:c.8791A>G | XP_016867131.1:p.Ile2931Val | |
| XM_017011643.2:c.8752A>G | XP_016867132.1:p.Ile2918Val | |
| XM_017011644.2:c.8791A>G | XP_016867133.1:p.Ile2931Val | |
| XM_017011645.2:c.8737A>G | XP_016867134.1:p.Ile2913Val | |
| XM_017011646.2:c.8752A>G | XP_016867135.1:p.Ile2918Val | |
| XM_017011647.2:c.8698A>G | XP_016867136.1:p.Ile2900Val | |
| XM_017011648.2:c.8695A>G | XP_016867137.1:p.Ile2899Val | |
| XM_017011649.2:c.8728A>G | XP_016867138.1:p.Ile2910Val | |
| XM_017011650.2:c.8656A>G | XP_016867139.1:p.Ile2886Val | |
| XM_017011651.2:c.8650A>G | XP_016867140.1:p.Ile2884Val | |
| XM_017011652.2:c.8791A>G | XP_016867141.1:p.Ile2931Val | |
| XM_017011653.2:c.8563A>G | XP_016867142.1:p.Ile2855Val | |
| XM_017011654.2:c.8515A>G | XP_016867143.1:p.Ile2839Val | |
| XM_017011655.2:c.8419A>G | XP_016867144.1:p.Ile2807Val | |
| XM_017011656.2:c.8419A>G | XP_016867145.1:p.Ile2807Val | |
| XM_017011657.2:c.4456A>G | XP_016867146.1:p.Ile1486Val | |
| XM_017011658.2:c.3340A>G | XP_016867147.1:p.Ile1114Val | |
| XM_017011659.2:c.3301A>G | XP_016867148.1:p.Ile1101Val | |
| XM_017011660.2:c.3301A>G | XP_016867149.1:p.Ile1101Val | |
| XM_024446631.1:c.8554A>G | XP_024302399.1:p.Ile2852Val | |
| NM_147185.3:c.8632A>G | NP_671714.1:p.Ile2878Val | |
| NM_001379277.1:c.3301A>G | NP_001366206.1:p.Ile1101Val | |
| NM_005751.5:c.8656A>G MANE Select | NP_005742.4:p.Ile2886Val |