Linked Data
dbSNP Id:
rs1489055848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175782T>G , CM000679.2:g.70175782T>G | GRCh38 |
| NC_000017.10:g.68171923T>G , CM000679.1:g.68171923T>G | GRCh37 |
| NC_000017.9:g.65683518T>G | NCBI36 |
| NG_008798.1:g.11248T>G , LRG_328:g.11248T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.743T>G MANE Select | ENSP00000243457.2:p.Ile248Arg | |
| ENST00000243457.3:c.743T>G | ENSP00000243457.2:p.Ile248Arg | |
| ENST00000535240.1:c.743T>G | ENSP00000441848.1:p.Ile248Arg | |
| NM_000891.2:c.743T>G , LRG_328t1:c.743T>G | NP_000882.1:p.Ile248Arg | |
| XM_011524779.1:c.743T>G | XP_011523081.1:p.Ile248Arg | |
| NM_000891.3:c.743T>G MANE Select | NP_000882.1:p.Ile248Arg |