Linked Data
ClinVar Variation Id:
2039183
ClinVar RCV Id:
RCV002899696
dbSNP Id:
rs758717223
ExAC:
2:73677285 A / G
gnomAD v2:
2-73677285-A-G
gnomAD v4:
2-73450158-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450158A>G , CM000664.2:g.73450158A>G | GRCh38 |
| NC_000002.11:g.73677285A>G , CM000664.1:g.73677285A>G | GRCh37 |
| NC_000002.10:g.73530793A>G | NCBI36 |
| NG_011690.1:g.69406A>G , LRG_741:g.69406A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3250A>G | ENSP00000507671.1:p.Ile1084Val | |
| ENST00000682801.1:c.3250A>G | ENSP00000507862.1:p.Ile1084Val | |
| ENST00000682859.1:c.3250A>G | ENSP00000508222.1:p.Ile1084Val | |
| ENST00000683791.1:c.685+17867A>G | ||
| ENST00000684460.1:c.702A>G | ||
| ENST00000684548.1:c.3250A>G | ENSP00000507421.1:p.Ile1084Val | |
| ENST00000684656.1:c.702A>G | ||
| ENST00000613296.6:c.3631A>G MANE Select | ENSP00000482968.1:p.Ile1211Val | |
| ENST00000484298.5:c.3505A>G | ENSP00000478155.1:p.Ile1169Val | |
| ENST00000613296.4:c.3631A>G | ENSP00000482968.1:p.Ile1211Val | |
| ENST00000614410.4:c.3631A>G | ENSP00000479094.1:p.Ile1211Val | |
| NM_015120.4:c.3634A>G , LRG_741t1:c.3634A>G | NP_055935.4:p.Ile1212Val | |
| NM_001378454.1:c.3631A>G MANE Select | NP_001365383.1:p.Ile1211Val |