Linked Data
dbSNP Id:
rs1566322131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.53051644T>C , CM000675.2:g.53051644T>C | GRCh38 |
| NC_000013.10:g.53625779T>C , CM000675.1:g.53625779T>C | GRCh37 |
| NC_000013.9:g.52523780T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219022.3:c.*873T>C MANE Select | ENSP00000219022.2:n.*873T>C | |
| ENST00000219022.2:c.*873T>C | ENSP00000219022.2:n.*873T>C | |
| NM_006418.4:c.*873T>C | NP_006409.3:n.*873T>C | |
| NM_006418.5:c.*873T>C MANE Select | NP_006409.3:n.*873T>C |