Linked Data
ClinVar Variation Id:
29843
ClinVar RCV Id:
RCV000022721
dbSNP Id:
rs387906673
PubMed:
PMID:22209248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131874314G>C , CM000668.2:g.131874314G>C | GRCh38 |
| NC_000006.11:g.132195454G>C , CM000668.1:g.132195454G>C | GRCh37 |
| NC_000006.10:g.132237147G>C | NCBI36 |
| NG_008206.1:g.71299G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684536.1:n.110G>C | ||
| ENST00000647893.1:c.1612G>C MANE Select | ENSP00000498074.1:p.Asp538His | |
| ENST00000647981.1:n.297G>C | ||
| ENST00000650437.1:c.1103G>C | ||
| ENST00000360971.6:c.1612G>C | ENSP00000354238.2:p.Asp538His | |
| ENST00000459624.1:n.656G>C | ||
| ENST00000513998.5:c.*449G>C | ENSP00000422424.1:n.*449G>C | |
| NM_006208.2:c.1612G>C | NP_006199.2:p.Asp538His | |
| XM_011535896.1:c.502G>C | XP_011534198.1:p.Asp168His | |
| NM_006208.3:c.1612G>C MANE Select | NP_006199.2:p.Asp538His |