Linked Data
ClinVar Variation Id:
15802
ClinVar RCV Id:
RCV000017143
dbSNP Id:
rs34684963
PubMed:
PMID:902765
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177108T>C , CM000678.2:g.177108T>C | GRCh38 |
| NC_000016.9:g.227107T>C , CM000678.1:g.227107T>C | GRCh37 |
| NC_000016.8:g.167107T>C | NCBI36 |
| NG_000006.1:g.37971T>C | |
| NG_059186.1:g.5458T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.275T>C MANE Select | ENSP00000322421.5:p.Leu92Pro | |
| ENST00000397797.1:c.179T>C | ENSP00000380899.1:p.Leu60Pro | |
| ENST00000472694.1:n.411T>C | ||
| ENST00000487791.1:n.244T>C | ||
| NM_000558.4:c.275T>C | NP_000549.1:p.Leu92Pro | |
| NM_000558.5:c.275T>C MANE Select | NP_000549.1:p.Leu92Pro |