Linked Data
ClinVar Variation Id:
280694
dbSNP Id:
rs746798986
ExAC:
2:39249943 T / C
gnomAD v2:
2-39249943-T-C
gnomAD v3:
2-39022802-T-C
gnomAD v4:
2-39022802-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022802T>C , CM000664.2:g.39022802T>C | GRCh38 |
| NC_000002.11:g.39249943T>C , CM000664.1:g.39249943T>C | GRCh37 |
| NC_000002.10:g.39103447T>C | NCBI36 |
| NG_007530.1:g.102662A>G , LRG_754:g.102662A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1506A>G | ||
| ENST00000685279.1:c.393A>G | ENSP00000509424.1:p.Ile131Met | |
| ENST00000688043.1:n.1847A>G | ||
| ENST00000689668.1:n.1633A>G | ||
| ENST00000690876.1:c.1515A>G | ENSP00000508955.1:p.Ile505Met | |
| ENST00000691229.1:c.1515A>G | ENSP00000510437.1:p.Ile505Met | |
| ENST00000692089.1:c.1515A>G | ENSP00000508626.1:p.Ile505Met | |
| ENST00000692620.1:c.393A>G | ENSP00000509311.1:p.Ile131Met | |
| ENST00000402219.8:c.1626A>G MANE Select | ENSP00000384675.2:p.Ile542Met | |
| ENST00000395038.6:c.1626A>G | ENSP00000378479.2:p.Ile542Met | |
| ENST00000402219.6:c.1626A>G | ENSP00000384675.2:p.Ile542Met | |
| ENST00000426016.5:c.1626A>G | ENSP00000387784.1:p.Ile542Met | |
| NM_005633.3:c.1626A>G , LRG_754t1:c.1626A>G | NP_005624.2:p.Ile542Met | |
| XM_005264515.3:c.1626A>G | XP_005264572.1:p.Ile542Met | |
| XM_011533060.1:c.1719A>G | XP_011531362.1:p.Ile573Met | |
| XM_011533061.1:c.1719A>G | XP_011531363.1:p.Ile573Met | |
| XM_011533062.1:c.1605A>G | XP_011531364.1:p.Ile535Met | |
| XM_011533063.1:c.1602A>G | XP_011531365.1:p.Ile534Met | |
| XM_011533064.1:c.1455A>G | XP_011531366.1:p.Ile485Met | |
| XM_011533065.1:c.1719A>G | XP_011531367.1:p.Ile573Met | |
| XM_011533066.1:c.561A>G | XP_011531368.1:p.Ile187Met | |
| XM_005264515.4:c.1626A>G | XP_005264572.1:p.Ile542Met | |
| XM_011533062.2:c.1605A>G | XP_011531364.1:p.Ile535Met | |
| XM_011533064.2:c.1455A>G | XP_011531366.1:p.Ile485Met | |
| NM_001382394.1:c.1605A>G | NP_001369323.1:p.Ile535Met | |
| NM_001382395.1:c.1626A>G | NP_001369324.1:p.Ile542Met | |
| NM_005633.4:c.1626A>G MANE Select | NP_005624.2:p.Ile542Met |