Linked Data
ClinVar Variation Id:
88752
ClinVar RCV Id:
RCV000074403
dbSNP Id:
rs397518477
PubMed:
PMID:24075184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851157G>C , CM000668.2:g.131851157G>C | GRCh38 |
| NC_000006.11:g.132172297G>C , CM000668.1:g.132172297G>C | GRCh37 |
| NC_000006.10:g.132213990G>C | NCBI36 |
| NG_008206.1:g.48142G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647893.1:c.446G>C MANE Select | ENSP00000498074.1:p.Cys149Ser | |
| ENST00000650147.1:c.124G>C | ||
| ENST00000650437.1:c.108+1051G>C | ||
| ENST00000360971.6:c.446G>C | ENSP00000354238.2:p.Cys149Ser | |
| ENST00000486853.1:n.466G>C | ||
| ENST00000513998.5:c.446G>C | ENSP00000422424.1:p.Cys149Ser | |
| NM_006208.2:c.446G>C | NP_006199.2:p.Cys149Ser | |
| NM_006208.3:c.446G>C MANE Select | NP_006199.2:p.Cys149Ser |