Linked Data
ClinVar Variation Id:
529373
dbSNP Id:
rs760321819
ExAC:
2:73799639 A / G
gnomAD v2:
2-73799639-A-G
gnomAD v3:
2-73572512-A-G
gnomAD v4:
2-73572512-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572512A>G , CM000664.2:g.73572512A>G | GRCh38 |
| NC_000002.11:g.73799639A>G , CM000664.1:g.73799639A>G | GRCh37 |
| NC_000002.10:g.73653147A>G | NCBI36 |
| NG_011690.1:g.191760A>G , LRG_741:g.191760A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10254A>G | ENSP00000507671.1:p.Ile3418Met | |
| ENST00000682801.1:c.10254A>G | ENSP00000507862.1:p.Ile3418Met | |
| ENST00000682859.1:c.10254A>G | ENSP00000508222.1:p.Ile3418Met | |
| ENST00000683791.1:c.3340A>G | ||
| ENST00000684460.1:c.7535A>G | ||
| ENST00000684548.1:c.10254A>G | ENSP00000507421.1:p.Ile3418Met | |
| ENST00000684590.1:c.4701A>G | ENSP00000507376.1:p.Ile1567Met | |
| ENST00000684656.1:c.7580A>G | ||
| ENST00000613296.6:c.10635A>G MANE Select | ENSP00000482968.1:p.Ile3545Met | |
| ENST00000651057.1:c.789A>G | ENSP00000498504.1:p.Ile263Met | |
| ENST00000651434.1:c.1991A>G | ||
| ENST00000651750.1:c.23A>G | ||
| ENST00000652487.1:c.1732A>G | ||
| ENST00000423048.5:c.4126A>G | ENSP00000399833.1:n.4126A>G | |
| ENST00000484298.5:c.10509A>G | ENSP00000478155.1:p.Ile3503Met | |
| ENST00000613296.4:c.10635A>G | ENSP00000482968.1:p.Ile3545Met | |
| ENST00000614410.4:c.10635A>G | ENSP00000479094.1:p.Ile3545Met | |
| ENST00000620466.4:n.4438A>G | ||
| NM_015120.4:c.10638A>G , LRG_741t1:c.10638A>G | NP_055935.4:p.Ile3546Met | |
| NM_001378454.1:c.10635A>G MANE Select | NP_001365383.1:p.Ile3545Met |