Linked Data
ClinVar Variation Id:
212291
dbSNP Id:
rs372900676
ExAC:
2:32379527 A / G
gnomAD v2:
2-32379527-A-G
gnomAD v3:
2-32154458-A-G
gnomAD v4:
2-32154458-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32154458A>G , CM000664.2:g.32154458A>G | GRCh38 |
| NC_000002.11:g.32379527A>G , CM000664.1:g.32379527A>G | GRCh37 |
| NC_000002.10:g.32233031A>G | NCBI36 |
| NG_008730.1:g.95848A>G , LRG_714:g.95848A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1473A>G | ENSP00000515816.1:n.*1473A>G | |
| ENST00000315285.9:c.1813A>G MANE Select | ENSP00000320885.3:p.Ile605Val | |
| ENST00000621856.2:c.1810A>G | ENSP00000482496.2:p.Ile604Val | |
| ENST00000642281.1:c.1550A>G | ||
| ENST00000642455.1:c.1714A>G | ENSP00000493827.1:p.Ile572Val | |
| ENST00000642751.1:c.1516A>G | ||
| ENST00000642999.1:c.1555A>G | ENSP00000496589.1:p.Ile519Val | |
| ENST00000644408.1:c.1712A>G | ||
| ENST00000644954.1:c.1459A>G | ENSP00000494312.1:p.Ile487Val | |
| ENST00000645159.1:n.2550A>G | ||
| ENST00000645671.1:c.1192A>G | ||
| ENST00000645730.1:c.992A>G | ||
| ENST00000646082.1:c.1459A>G | ||
| ENST00000646571.1:c.1717A>G | ENSP00000495015.1:p.Ile573Val | |
| ENST00000647007.1:n.1505A>G | ||
| ENST00000647133.1:c.1313A>G | ||
| ENST00000315285.7:c.1813A>G | ENSP00000320885.3:p.Ile605Val | |
| ENST00000345662.5:c.1717A>G | ENSP00000340817.1:p.Ile573Val | |
| ENST00000615843.4:c.1813A>G | ENSP00000480893.1:p.Ile605Val | |
| ENST00000621856.1:c.1555A>G | ENSP00000482496.1:p.Ile519Val | |
| NM_014946.3:c.1813A>G , LRG_714t1:c.1813A>G | NP_055761.2:p.Ile605Val | |
| NM_199436.1:c.1717A>G | NP_955468.1:p.Ile573Val | |
| XM_005264516.3:c.1810A>G | XP_005264573.1:p.Ile604Val | |
| NM_001363823.1:c.1810A>G | NP_001350752.1:p.Ile604Val | |
| NM_001363875.1:c.1714A>G | NP_001350804.1:p.Ile572Val | |
| XM_005264516.5:c.1810A>G | XP_005264573.1:p.Ile604Val | |
| XM_011533067.2:c.*86A>G | XP_011531369.1:n.*86A>G | |
| XM_017004778.2:c.*86A>G | XP_016860267.1:n.*86A>G | |
| NM_001363823.2:c.1810A>G | NP_001350752.1:p.Ile604Val | |
| NM_001363875.2:c.1714A>G | NP_001350804.1:p.Ile572Val | |
| NM_001377959.1:c.*86A>G | NP_001364888.1:n.*86A>G | |
| NM_014946.4:c.1813A>G MANE Select | NP_055761.2:p.Ile605Val | |
| NM_199436.2:c.1717A>G | NP_955468.1:p.Ile573Val |