Linked Data
ClinVar Variation Id:
191799
ClinVar RCV Id:
RCV000172135
dbSNP Id:
rs786205288
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156250G>C , CM000681.2:g.55156250G>C | GRCh38 |
| NC_000019.9:g.55667618G>C , CM000681.1:g.55667618G>C | GRCh37 |
| NC_000019.8:g.60359430G>C | NCBI36 |
| NG_007866.2:g.6483C>G , LRG_432:g.6483C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.233C>G MANE Select | ENSP00000341838.5:p.Thr78Ser | |
| ENST00000665070.1:c.233C>G | ENSP00000499482.1:p.Thr78Ser | |
| ENST00000344887.9:c.233C>G | ENSP00000341838.5:p.Thr78Ser | |
| ENST00000585806.5:n.232C>G | ||
| ENST00000586669.5:n.241C>G | ||
| ENST00000587176.5:n.417C>G | ||
| ENST00000587871.1:c.852C>G | ||
| ENST00000588882.1:c.158C>G | ENSP00000466729.1:p.Thr53Ser | |
| ENST00000590463.1:n.405C>G | ||
| NM_000363.4:c.233C>G , LRG_432t1:c.233C>G | NP_000354.4:p.Thr78Ser | |
| NM_000363.5:c.233C>G MANE Select | NP_000354.4:p.Thr78Ser |