Linked Data
ClinVar Variation Id:
424659
ClinVar RCV Id:
RCV000515861
dbSNP Id:
rs1555177831
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569304G>C , CM000674.2:g.57569304G>C | GRCh38 |
| NC_000012.11:g.57963087G>C , CM000674.1:g.57963087G>C | GRCh37 |
| NC_000012.10:g.56249354G>C | NCBI36 |
| NG_008155.1:g.24241G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.868G>C MANE Select | ENSP00000408979.2:p.Asp290His | |
| ENST00000674619.1:c.868G>C | ENSP00000502270.1:p.Asp290His | |
| ENST00000676081.1:n.14G>C | ||
| ENST00000676457.1:c.763G>C | ENSP00000501588.1:p.Asp255His | |
| ENST00000286452.5:c.601G>C | ENSP00000286452.5:p.Asp201His | |
| ENST00000455537.6:c.868G>C | ENSP00000408979.2:p.Asp290His | |
| NM_004984.2:c.868G>C | NP_004975.2:p.Asp290His | |
| NM_001354705.1:c.601G>C | NP_001341634.1:p.Asp201His | |
| NM_004984.3:c.868G>C | NP_004975.2:p.Asp290His | |
| XR_002957324.1:n.1101G>C | ||
| NM_004984.4:c.868G>C MANE Select | NP_004975.2:p.Asp290His | |
| NM_001354705.2:c.601G>C | NP_001341634.1:p.Asp201His |