Linked Data
ClinVar Variation Id:
241324
dbSNP Id:
rs143662421
ExAC:
14:45658449 A / G
gnomAD v2:
14-45658449-A-G
gnomAD v3:
14-45189246-A-G
gnomAD v4:
14-45189246-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45189246A>G , CM000676.2:g.45189246A>G | GRCh38 |
| NC_000014.8:g.45658449A>G , CM000676.1:g.45658449A>G | GRCh37 |
| NC_000014.7:g.44728199A>G | NCBI36 |
| NG_007417.1:g.58314A>G , LRG_502:g.58314A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.3436A>G | ENSP00000450632.2:p.Ile1146Val | |
| ENST00000555484.2:c.1002A>G | ||
| ENST00000556250.6:c.5017A>G | ENSP00000452033.2:p.Ile1673Val | |
| ENST00000557110.2:c.1002A>G | ||
| ENST00000696642.1:c.*4035A>G | ENSP00000512775.1:n.*4035A>G | |
| ENST00000696645.1:n.1114A>G | ||
| ENST00000696647.1:c.5224A>G | ENSP00000512778.1:p.Ile1742Val | |
| ENST00000696648.1:c.*3249A>G | ENSP00000512779.1:n.*3249A>G | |
| ENST00000696649.1:c.5068A>G | ENSP00000512780.1:p.Ile1690Val | |
| ENST00000696650.1:n.5172A>G | ||
| ENST00000696659.1:c.3222A>G | ||
| ENST00000696663.1:c.4155A>G | ||
| ENST00000696664.1:c.4056A>G | ||
| ENST00000696665.1:c.1002A>G | ||
| ENST00000696675.1:c.*980A>G | ENSP00000512799.1:n.*980A>G | |
| ENST00000696683.1:c.3968+73A>G | ||
| ENST00000696684.1:c.4041A>G | ||
| ENST00000696685.1:c.4041A>G | ||
| ENST00000696686.1:n.1961A>G | ||
| ENST00000267430.10:c.5224A>G MANE Select | ENSP00000267430.5:p.Ile1742Val | |
| ENST00000267430.9:c.5224A>G | ENSP00000267430.5:p.Ile1742Val | |
| ENST00000542564.6:c.5146A>G | ENSP00000442493.2:p.Ile1716Val | |
| ENST00000554809.5:c.2021A>G | ||
| ENST00000556250.5:c.3772A>G | ENSP00000452033.1:p.Ile1258Val | |
| NM_001308133.1:c.5146A>G | NP_001295062.1:p.Ile1716Val | |
| NM_020937.2:c.5224A>G , LRG_502t1:c.5224A>G | NP_065988.1:p.Ile1742Val | |
| NM_020937.3:c.5224A>G | NP_065988.1:p.Ile1742Val | |
| XM_011537034.1:c.5239A>G | XP_011535336.1:p.Ile1747Val | |
| XM_011537035.1:c.5161A>G | XP_011535337.1:p.Ile1721Val | |
| XM_011537036.1:c.5239A>G | XP_011535338.1:p.Ile1747Val | |
| XM_011537037.1:c.3253A>G | XP_011535339.1:p.Ile1085Val | |
| XM_011537034.2:c.5239A>G | XP_011535336.1:p.Ile1747Val | |
| XM_011537035.3:c.5161A>G | XP_011535337.1:p.Ile1721Val | |
| XM_011537037.3:c.3253A>G | XP_011535339.1:p.Ile1085Val | |
| XM_017021523.1:c.5239A>G | XP_016877012.1:p.Ile1747Val | |
| XM_017021524.2:c.4276A>G | XP_016877013.1:p.Ile1426Val | |
| XM_017021525.2:c.4054A>G | XP_016877014.1:p.Ile1352Val | |
| XM_017021526.2:c.4054A>G | XP_016877015.1:p.Ile1352Val | |
| XM_017021527.1:c.4039A>G | XP_016877016.1:p.Ile1347Val | |
| XR_001750470.1:n.5331A>G | ||
| XR_001750471.2:n.5316A>G | ||
| NM_020937.4:c.5224A>G MANE Select | NP_065988.1:p.Ile1742Val | |
| NM_001308133.2:c.5146A>G | NP_001295062.1:p.Ile1716Val |