Linked Data
ClinVar Variation Id:
288557
dbSNP Id:
rs188891842
ExAC:
4:15572102 A / G
gnomAD v2:
4-15572102-A-G
gnomAD v3:
4-15570479-A-G
gnomAD v4:
4-15570479-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15570479A>G , CM000666.2:g.15570479A>G | GRCh38 |
| NC_000004.11:g.15572102A>G , CM000666.1:g.15572102A>G | GRCh37 |
| NC_000004.10:g.15181200A>G | NCBI36 |
| NG_013035.1:g.105614A>G , LRG_697:g.105614A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.3592A>G | ENSP00000374303.8:p.Ile1198Val | |
| ENST00000424120.6:c.3577A>G MANE Select | ENSP00000403465.1:p.Ile1193Val | |
| ENST00000503292.6:c.3577A>G | ENSP00000421809.1:p.Ile1193Val | |
| ENST00000506643.5:c.3430A>G | ENSP00000422931.2:p.Ile1144Val | |
| ENST00000634028.2:c.3430A>G | ENSP00000488669.2:p.Ile1144Val | |
| ENST00000650860.2:c.*583A>G | ENSP00000498775.1:n.*583A>G | |
| ENST00000674945.1:c.3430A>G | ENSP00000502333.1:p.Ile1144Val | |
| ENST00000675619.1:n.4388A>G | ||
| ENST00000675768.1:n.797A>G | ||
| ENST00000676337.1:c.*583A>G | ENSP00000501728.1:n.*583A>G | |
| ENST00000680586.1:n.4236A>G | ||
| ENST00000389652.9:c.3054A>G | ||
| ENST00000424120.5:c.3577A>G | ENSP00000403465.1:p.Ile1193Val | |
| ENST00000503292.5:c.3577A>G | ENSP00000421809.1:p.Ile1193Val | |
| ENST00000506643.4:c.1905A>G | ||
| ENST00000634028.1:c.3560A>G | ENSP00000488669.1:n.3560A>G | |
| NM_001080522.2:c.3577A>G , LRG_697t1:c.3577A>G | NP_001073991.2:p.Ile1193Val | |
| XM_005248177.1:c.3577A>G | XP_005248234.1:p.Ile1193Val | |
| XM_011513869.1:c.3577A>G | XP_011512171.1:p.Ile1193Val | |
| XM_011513870.1:c.3577A>G | XP_011512172.1:p.Ile1193Val | |
| XM_011513871.1:c.3430A>G | XP_011512173.1:p.Ile1144Val | |
| XM_017008482.1:c.3430A>G | XP_016863971.1:p.Ile1144Val | |
| XR_001741296.1:n.3822A>G | ||
| NM_001378615.1:c.3577A>G MANE Select | NP_001365544.1:p.Ile1193Val | |
| NM_001378617.1:c.3430A>G | NP_001365546.1:p.Ile1144Val |