Linked Data
ClinVar Variation Id:
290127
dbSNP Id:
rs758699499
ExAC:
2:39249749 A / G
gnomAD v2:
2-39249749-A-G
gnomAD v3:
2-39022608-A-G
gnomAD v4:
2-39022608-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022608A>G , CM000664.2:g.39022608A>G | GRCh38 |
| NC_000002.11:g.39249749A>G , CM000664.1:g.39249749A>G | GRCh37 |
| NC_000002.10:g.39103253A>G | NCBI36 |
| NG_007530.1:g.102856T>C , LRG_754:g.102856T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1700T>C | ||
| ENST00000685279.1:c.587T>C | ENSP00000509424.1:p.Ile196Thr | |
| ENST00000688043.1:n.2041T>C | ||
| ENST00000689668.1:n.1827T>C | ||
| ENST00000690876.1:c.1709T>C | ENSP00000508955.1:p.Ile570Thr | |
| ENST00000691229.1:c.1709T>C | ENSP00000510437.1:p.Ile570Thr | |
| ENST00000692089.1:c.1709T>C | ENSP00000508626.1:p.Ile570Thr | |
| ENST00000692620.1:c.587T>C | ENSP00000509311.1:p.Ile196Thr | |
| ENST00000402219.8:c.1820T>C MANE Select | ENSP00000384675.2:p.Ile607Thr | |
| ENST00000395038.6:c.1820T>C | ENSP00000378479.2:p.Ile607Thr | |
| ENST00000402219.6:c.1820T>C | ENSP00000384675.2:p.Ile607Thr | |
| ENST00000426016.5:c.1820T>C | ENSP00000387784.1:p.Ile607Thr | |
| NM_005633.3:c.1820T>C , LRG_754t1:c.1820T>C | NP_005624.2:p.Ile607Thr | |
| XM_005264515.3:c.1820T>C | XP_005264572.1:p.Ile607Thr | |
| XM_011533060.1:c.1913T>C | XP_011531362.1:p.Ile638Thr | |
| XM_011533061.1:c.1913T>C | XP_011531363.1:p.Ile638Thr | |
| XM_011533062.1:c.1799T>C | XP_011531364.1:p.Ile600Thr | |
| XM_011533063.1:c.1796T>C | XP_011531365.1:p.Ile599Thr | |
| XM_011533064.1:c.1649T>C | XP_011531366.1:p.Ile550Thr | |
| XM_011533065.1:c.1913T>C | XP_011531367.1:p.Ile638Thr | |
| XM_011533066.1:c.755T>C | XP_011531368.1:p.Ile252Thr | |
| XM_005264515.4:c.1820T>C | XP_005264572.1:p.Ile607Thr | |
| XM_011533062.2:c.1799T>C | XP_011531364.1:p.Ile600Thr | |
| XM_011533064.2:c.1649T>C | XP_011531366.1:p.Ile550Thr | |
| NM_001382394.1:c.1799T>C | NP_001369323.1:p.Ile600Thr | |
| NM_001382395.1:c.1820T>C | NP_001369324.1:p.Ile607Thr | |
| NM_005633.4:c.1820T>C MANE Select | NP_005624.2:p.Ile607Thr |