Linked Data
dbSNP Id:
rs1055240260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143300C>G , CM000666.2:g.185143300C>G | GRCh38 |
| NC_000004.11:g.186064454C>G , CM000666.1:g.186064454C>G | GRCh37 |
| NC_000004.10:g.186301448C>G | NCBI36 |
| NG_013001.1:g.5038C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.-73C>G MANE Select | ENSP00000281456.5:n.-73C>G | |
| ENST00000281456.10:c.-73C>G | ENSP00000281456.5:n.-73C>G | |
| ENST00000491736.1:c.-73C>G | ENSP00000476711.1:n.-73C>G | |
| NM_001151.3:c.-73C>G | NP_001142.2:n.-73C>G | |
| NM_001151.4:c.-73C>G MANE Select | NP_001142.2:n.-73C>G |