Linked Data
ClinVar Variation Id:
11178
ClinVar RCV Id:
RCV001224353
dbSNP Id:
rs104894805
PubMed:
PMID:10323252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380980C>A , CM000685.2:g.154380980C>A | GRCh38 |
| NC_000023.10:g.153609340C>A , CM000685.1:g.153609340C>A | GRCh37 |
| NC_000023.9:g.153262534C>A | NCBI36 |
| NG_008677.1:g.11545C>A , LRG_745:g.11545C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.548C>A | ENSP00000507245.1:p.Pro183His | |
| ENST00000682478.1:n.738C>A | ||
| ENST00000683576.1:n.738C>A | ||
| ENST00000683627.1:c.548C>A | ENSP00000507533.1:p.Pro183His | |
| ENST00000684082.1:c.505C>A | ENSP00000508266.1:n.505C>A | |
| ENST00000684633.1:n.520C>A | ||
| ENST00000684678.1:c.544C>A | ENSP00000507059.1:n.544C>A | |
| ENST00000369842.9:c.548C>A MANE Select | ENSP00000358857.4:p.Pro183His | |
| ENST00000369835.3:c.443C>A | ENSP00000358850.3:p.Pro148His | |
| ENST00000369842.8:c.548C>A | ENSP00000358857.4:p.Pro183His | |
| ENST00000428228.5:c.*453C>A | ENSP00000401081.1:n.*453C>A | |
| ENST00000471965.1:n.337C>A | ||
| ENST00000486738.5:n.985C>A | ||
| ENST00000492448.1:n.531C>A | ||
| NM_000117.2:c.548C>A , LRG_745t1:c.548C>A | NP_000108.1:p.Pro183His | |
| XM_024452349.1:c.554C>A | XP_024308117.1:p.Pro185His | |
| NM_000117.3:c.548C>A MANE Select | NP_000108.1:p.Pro183His |