Linked Data
dbSNP Id:
rs1847969745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253188T>C , CM000673.2:g.5253188T>C | GRCh38 |
| NC_000011.9:g.5274418T>C , CM000673.1:g.5274418T>C | GRCh37 |
| NC_000011.8:g.5230994T>C | NCBI36 |
| NG_000007.3:g.44428A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.*89A>G MANE Select | ENSP00000338082.4:n.*89A>G | |
| ENST00000642908.1:c.315+1104A>G | ENSP00000495346.1:n.315+1104A>G | |
| ENST00000647543.1:c.378+155A>G | ENSP00000496470.1:n.378+155A>G | |
| ENST00000620888.4:c.315+1104A>G | ENSP00000479637.1:n.315+1104A>G | |
| NM_000184.3:c.*89A>G MANE Select | NP_000175.1:n.*89A>G |