Linked Data
ClinVar Variation Id:
236144
dbSNP Id:
rs886044758
gnomAD v2:
1-94471067-A-G
gnomAD v4:
1-94005511-A-G
PubMed:
PMID:28118664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005511A>G , CM000663.2:g.94005511A>G | GRCh38 |
| NC_000001.10:g.94471067A>G , CM000663.1:g.94471067A>G | GRCh37 |
| NC_000001.9:g.94243655A>G | NCBI36 |
| NG_009073.1:g.120639T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6077T>C MANE Select | ENSP00000359245.3:p.Leu2026Pro | |
| ENST00000370225.3:c.6077T>C | ENSP00000359245.3:p.Leu2026Pro | |
| ENST00000465352.1:n.493T>C | ||
| ENST00000484388.1:n.191T>C | ||
| ENST00000536513.5:c.2453T>C | ENSP00000439707.2:p.Leu818Pro | |
| NM_000350.2:c.6077T>C | NP_000341.2:p.Leu2026Pro | |
| NM_000350.3:c.6077T>C MANE Select | NP_000341.2:p.Leu2026Pro |