Linked Data
ClinVar Variation Id:
441243
ClinVar RCV Id:
RCV000509580
dbSNP Id:
rs1555532483
PubMed:
PMID:28942965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5433040A>G , CM000679.2:g.5433040A>G | GRCh38 |
| NC_000017.10:g.5336360A>G , CM000679.1:g.5336360A>G | GRCh37 |
| NC_000017.9:g.5277084A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225698.8:c.824T>C MANE Select | ENSP00000225698.4:p.Leu275Pro | |
| ENST00000570805.1:c.512T>C | ENSP00000460638.1:p.Leu171Pro | |
| ENST00000574444.5:c.512T>C | ENSP00000460308.1:p.Leu171Pro | |
| NM_001212.3:c.824T>C | NP_001203.1:p.Leu275Pro | |
| NM_001212.4:c.824T>C MANE Select | NP_001203.1:p.Leu275Pro |