Linked Data
ClinVar Variation Id:
9930
ClinVar RCV Id:
RCV000010608
dbSNP Id:
rs137852542
PubMed:
PMID:171280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107639326G>C , CM000685.2:g.107639326G>C | GRCh38 |
| NC_000023.10:g.106882556G>C , CM000685.1:g.106882556G>C | GRCh37 |
| NC_000023.9:g.106769212G>C | NCBI36 |
| NG_008407.1:g.15903G>C , LRG_264:g.15903G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372418.4:c.154G>C | ENSP00000361495.2:p.Asp52His | |
| ENST00000372435.10:c.154G>C MANE Select | ENSP00000361512.4:p.Asp52His | |
| ENST00000643795.2:c.154G>C | ENSP00000496286.1:p.Asp52His | |
| ENST00000644642.1:c.123-5851G>C | ENSP00000495493.1:n.123-5851G>C | |
| ENST00000645638.1:c.*123G>C | ENSP00000496554.1:n.*123G>C | |
| ENST00000645903.1:n.248G>C | ||
| ENST00000674525.1:n.239G>C | ||
| ENST00000674826.1:c.123-1576G>C | ENSP00000502278.1:n.123-1576G>C | |
| ENST00000674843.1:c.256G>C | ENSP00000502260.1:n.256G>C | |
| ENST00000675046.1:c.32G>C | ||
| ENST00000675304.1:n.87G>C | ||
| ENST00000675720.1:c.32G>C | ||
| ENST00000676092.1:c.154G>C | ENSP00000502780.1:p.Asp52His | |
| ENST00000372419.3:c.154G>C | ENSP00000361496.3:p.Asp52His | |
| ENST00000372428.8:c.-82-5851G>C | ENSP00000361505.5:n.-82-5851G>C | |
| ENST00000372435.8:c.154G>C | ENSP00000361512.4:p.Asp52His | |
| NM_001204402.1:c.-82-5851G>C | NP_001191331.1:n.-82-5851G>C | |
| NM_002764.3:c.154G>C , LRG_264t1:c.154G>C | NP_002755.1:p.Asp52His | |
| NM_002764.4:c.154G>C MANE Select | NP_002755.1:p.Asp52His | |
| NM_001204402.2:c.-82-5851G>C | NP_001191331.1:n.-82-5851G>C |