Linked Data
ClinVar Variation Id:
183048
ClinVar RCV Id:
RCV000161917
dbSNP Id:
rs730882145
PubMed:
PMID:25149867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37782041C>A , CM000671.2:g.37782041C>A | GRCh38 |
| NC_000009.11:g.37782038C>A , CM000671.1:g.37782038C>A | GRCh37 |
| NC_000009.10:g.37772038C>A | NCBI36 |
| NG_032780.1:g.8052G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327304.10:c.571G>T MANE Select | ENSP00000323046.4:p.Gly191Cys | |
| ENST00000465860.6:n.272G>T | ||
| ENST00000678095.1:c.81-1161G>T | ENSP00000503205.1:n.81-1161G>T | |
| ENST00000678588.1:n.1248G>T | ||
| ENST00000679059.1:c.475-1161G>T | ENSP00000503947.1:n.475-1161G>T | |
| ENST00000327304.9:c.571G>T | ENSP00000323046.4:p.Gly191Cys | |
| ENST00000396521.3:c.475-1161G>T | ENSP00000379775.3:n.475-1161G>T | |
| ENST00000465229.5:c.475-1161G>T | ENSP00000418422.1:n.475-1161G>T | |
| ENST00000465860.5:n.272G>T | ||
| ENST00000482614.5:n.332G>T | ||
| ENST00000489414.5:n.290G>T | ||
| ENST00000490516.5:n.481-1161G>T | ||
| ENST00000540557.1:c.*910+1873G>T | ENSP00000457548.1:n.*910+1873G>T | |
| NM_001002269.2:c.475-1161G>T | NP_001002269.1:n.475-1161G>T | |
| NM_016042.3:c.571G>T | NP_057126.2:p.Gly191Cys | |
| NM_016042.4:c.571G>T MANE Select | NP_057126.2:p.Gly191Cys |