Linked Data
ClinVar Variation Id:
37034
ClinVar RCV Id:
RCV000030694
dbSNP Id:
rs387907264
PubMed:
PMID:22801503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4946742A>C , CM000679.2:g.4946742A>C | GRCh38 |
| NC_000017.10:g.4850037A>C , CM000679.1:g.4850037A>C | GRCh37 |
| NC_000017.9:g.4790782A>C | NCBI36 |
| NG_012063.2:g.5652A>C | |
| NG_032945.1:g.7345T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.211T>G MANE Select | ENSP00000225655.5:p.Cys71Gly | |
| ENST00000225655.5:c.211T>G | ENSP00000225655.5:p.Cys71Gly | |
| ENST00000572383.1:c.448T>G | ENSP00000460363.1:p.Cys150Gly | |
| ENST00000574872.1:c.103T>G | ENSP00000465019.1:p.Cys35Gly | |
| NM_005022.3:c.211T>G | NP_005013.1:p.Cys71Gly | |
| XM_017024761.1:c.211T>G | XP_016880250.1:p.Cys71Gly | |
| NM_001375991.1:c.211T>G | NP_001362920.1:p.Cys71Gly | |
| NM_005022.4:c.211T>G MANE Select | NP_005013.1:p.Cys71Gly |