Linked Data
ClinVar Variation Id:
653684
dbSNP Id:
rs757670376
ExAC:
11:61205542 T / G
gnomAD v2:
11-61205542-T-G
gnomAD v4:
11-61438070-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61438070T>G , CM000673.2:g.61438070T>G | GRCh38 |
| NC_000011.9:g.61205542T>G , CM000673.1:g.61205542T>G | GRCh37 |
| NC_000011.8:g.60962118T>G | NCBI36 |
| NG_023393.1:g.12946T>G , LRG_519:g.12946T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.327T>G MANE Select | ENSP00000301761.3:p.Ile109Met | |
| ENST00000301761.6:c.327T>G | ENSP00000301761.2:p.Ile109Met | |
| ENST00000359614.9:c.327T>G | ENSP00000352630.5:p.Ile109Met | |
| ENST00000534878.5:c.327T>G | ENSP00000471030.1:p.Ile109Met | |
| ENST00000536250.1:c.*329T>G | ENSP00000471120.1:n.*329T>G | |
| ENST00000536670.5:n.353T>G | ||
| ENST00000537782.5:c.327T>G | ENSP00000469951.1:p.Ile109Met | |
| ENST00000538594.5:c.327T>G | ENSP00000440939.1:p.Ile109Met | |
| ENST00000541135.5:c.327T>G | ENSP00000443130.1:p.Ile109Met | |
| ENST00000542074.1:c.37-7871T>G | ENSP00000469670.1:n.37-7871T>G | |
| ENST00000542794.5:c.*329T>G | ENSP00000439983.1:n.*329T>G | |
| ENST00000543044.2:c.291T>G | ENSP00000440219.1:p.Ile97Met | |
| ENST00000543265.1:c.260+222T>G | ENSP00000443660.1:n.260+222T>G | |
| ENST00000544025.5:n.422T>G | ||
| ENST00000544801.5:c.327T>G | ENSP00000442581.1:p.Ile109Met | |
| ENST00000544880.1:n.331T>G | ||
| NM_017841.2:c.327T>G , LRG_519t1:c.327T>G | NP_060311.1:p.Ile109Met | |
| NM_017841.4:c.327T>G MANE Select | NP_060311.1:p.Ile109Met |