Linked Data
ClinVar Variation Id:
15706
ClinVar RCV Id:
RCV000016998
dbSNP Id:
rs35776155
PubMed:
PMID:3438164
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176946C>G , CM000678.2:g.176946C>G | GRCh38 |
| NC_000016.9:g.226945C>G , CM000678.1:g.226945C>G | GRCh37 |
| NC_000016.8:g.166945C>G | NCBI36 |
| NG_000006.1:g.37809C>G | |
| NG_059186.1:g.5296C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.113C>G MANE Select | ENSP00000322421.5:p.Pro38Arg | |
| ENST00000397797.1:c.17C>G | ENSP00000380899.1:p.Pro6Arg | |
| ENST00000472694.1:n.249C>G | ||
| ENST00000487791.1:n.82C>G | ||
| NM_000558.4:c.113C>G | NP_000549.1:p.Pro38Arg | |
| NM_000558.5:c.113C>G MANE Select | NP_000549.1:p.Pro38Arg |