Linked Data
dbSNP Id:
rs17086609
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28355574A>C , CM000675.2:g.28355574A>C | GRCh38 |
| NC_000013.10:g.28929711A>C , CM000675.1:g.28929711A>C | GRCh37 |
| NC_000013.9:g.27827711A>C | NCBI36 |
| NG_012003.1:g.144555T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282397.9:c.2248+1980T>G MANE Select | ENSP00000282397.4:n.2248+1980T>G | |
| ENST00000282397.8:c.2248+1980T>G | ENSP00000282397.4:n.2248+1980T>G | |
| NM_002019.4:c.2248+1980T>G MANE Select | NP_002010.2:n.2248+1980T>G | |
| XM_017020485.1:c.2248+1980T>G | XP_016875974.1:n.2248+1980T>G |