Linked Data
dbSNP Id:
rs745320534
ExAC:
3:124456443 T / G
gnomAD v2:
3-124456443-T-G
gnomAD v4:
3-124737596-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124737596T>G , CM000665.2:g.124737596T>G | GRCh38 |
| NC_000003.11:g.124456443T>G , CM000665.1:g.124456443T>G | GRCh37 |
| NC_000003.10:g.125939133T>G | NCBI36 |
| NG_017037.1:g.12231T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000232607.7:c.339T>G MANE Select | ENSP00000232607.2:p.Ile113Met | |
| ENST00000232607.6:c.339T>G | ENSP00000232607.2:p.Ile113Met | |
| ENST00000460034.5:c.*83T>G | ENSP00000420409.1:n.*83T>G | |
| ENST00000462091.5:c.*11T>G | ENSP00000417893.1:n.*11T>G | |
| ENST00000467167.5:c.*237T>G | ENSP00000419618.1:n.*237T>G | |
| ENST00000474588.5:c.311-319T>G | ENSP00000420348.1:n.311-319T>G | |
| ENST00000479719.5:c.339T>G | ENSP00000420754.1:p.Ile113Met | |
| ENST00000497791.5:c.*11T>G | ENSP00000419121.1:n.*11T>G | |
| ENST00000498715.1:n.57T>G | ||
| NM_000373.3:c.339T>G | NP_000364.1:p.Ile113Met | |
| NR_033434.1:n.291T>G | ||
| NR_033437.1:n.544T>G | ||
| XR_001740253.2:n.369T>G | ||
| NM_000373.4:c.339T>G MANE Select | NP_000364.1:p.Ile113Met | |
| NR_033434.2:n.205T>G | ||
| NR_033437.2:n.458T>G |