Linked Data
dbSNP Id:
rs1343542619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778173T>C , CM000673.2:g.116778173T>C | GRCh38 |
| NC_000011.9:g.116648889T>C , CM000673.1:g.116648889T>C | GRCh37 |
| NC_000011.8:g.116154099T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*752A>G MANE Select | ENSP00000227322.3:n.*752A>G | |
| ENST00000227322.7:c.*752A>G | ENSP00000227322.3:n.*752A>G | |
| ENST00000429220.5:c.1911A>G | ||
| ENST00000444935.5:c.2044A>G | ||
| NM_003904.5:c.*752A>G MANE Select | NP_003895.1:n.*752A>G | |
| NM_001317086.2:c.*752A>G | NP_001304015.1:n.*752A>G |