Linked Data
dbSNP Id:
rs1808006426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478599A>C , CM000670.2:g.81478599A>C | GRCh38 |
| NC_000008.10:g.82390834A>C , CM000670.1:g.82390834A>C | GRCh37 |
| NC_000008.9:g.82553389A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*266T>G MANE Select | ENSP00000256104.4:n.*266T>G | |
| ENST00000256104.4:c.*266T>G | ENSP00000256104.4:n.*266T>G | |
| NM_001442.2:c.*266T>G | NP_001433.1:n.*266T>G | |
| XR_001745980.1:n.514+16625A>C | ||
| NM_001442.3:c.*266T>G MANE Select | NP_001433.1:n.*266T>G |