Linked Data
ClinVar Variation Id:
240977
dbSNP Id:
rs201819880
ExAC:
2:73800357 A / G
gnomAD v2:
2-73800357-A-G
gnomAD v3:
2-73573230-A-G
gnomAD v4:
2-73573230-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73573230A>G , CM000664.2:g.73573230A>G | GRCh38 |
| NC_000002.11:g.73800357A>G , CM000664.1:g.73800357A>G | GRCh37 |
| NC_000002.10:g.73653865A>G | NCBI36 |
| NG_011690.1:g.192478A>G , LRG_741:g.192478A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10972A>G | ENSP00000507671.1:p.Ile3658Val | |
| ENST00000682801.1:c.10972A>G | ENSP00000507862.1:p.Ile3658Val | |
| ENST00000682859.1:c.10972A>G | ENSP00000508222.1:p.Ile3658Val | |
| ENST00000683791.1:c.4058A>G | ||
| ENST00000684460.1:c.8253A>G | ||
| ENST00000684548.1:c.10972A>G | ENSP00000507421.1:p.Ile3658Val | |
| ENST00000684590.1:c.5419A>G | ENSP00000507376.1:p.Ile1807Val | |
| ENST00000684656.1:c.8298A>G | ||
| ENST00000613296.6:c.11353A>G MANE Select | ENSP00000482968.1:p.Ile3785Val | |
| ENST00000651057.1:c.1507A>G | ENSP00000498504.1:p.Ile503Val | |
| ENST00000651434.1:c.2709A>G | ||
| ENST00000651750.1:c.741A>G | ||
| ENST00000652487.1:c.2450A>G | ||
| ENST00000423048.5:c.4844A>G | ENSP00000399833.1:n.4844A>G | |
| ENST00000484298.5:c.11227A>G | ENSP00000478155.1:p.Ile3743Val | |
| ENST00000613296.4:c.11353A>G | ENSP00000482968.1:p.Ile3785Val | |
| ENST00000614410.4:c.11353A>G | ENSP00000479094.1:p.Ile3785Val | |
| ENST00000620466.4:n.5156A>G | ||
| NM_015120.4:c.11356A>G , LRG_741t1:c.11356A>G | NP_055935.4:p.Ile3786Val | |
| NM_001378454.1:c.11353A>G MANE Select | NP_001365383.1:p.Ile3785Val |