Linked Data
ClinVar Variation Id:
391
ClinVar RCV Id:
RCV000000422
dbSNP Id:
rs104893892
PubMed:
PMID:8244332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151267375G>C , CM000667.2:g.151267375G>C | GRCh38 |
| NC_000005.9:g.150646936G>C , CM000667.1:g.150646936G>C | GRCh37 |
| NC_000005.8:g.150627129G>C | NCBI36 |
| NG_009059.1:g.19324G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.506G>C MANE Select | ENSP00000349687.3:p.Arg169Pro | |
| ENST00000357164.3:c.506G>C | ENSP00000349687.3:p.Arg169Pro | |
| NM_000405.4:c.506G>C | NP_000396.2:p.Arg169Pro | |
| NM_001167607.1:c.413-117G>C | NP_001161079.1:n.413-117G>C | |
| NM_000405.5:c.506G>C MANE Select | NP_000396.2:p.Arg169Pro | |
| NM_001167607.2:c.413-117G>C | NP_001161079.1:n.413-117G>C | |
| NM_001167607.3:c.413-117G>C | NP_001161079.1:n.413-117G>C |