Linked Data
ClinVar Variation Id:
56078
ClinVar RCV Id:
RCV000049487
dbSNP Id:
rs386833559
PubMed:
PMID:15192636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6645255A>C , CM000671.2:g.6645255A>C | GRCh38 |
| NC_000009.11:g.6645255A>C , CM000671.1:g.6645255A>C | GRCh37 |
| NC_000009.10:g.6635255A>C | NCBI36 |
| NG_016397.1:g.5438T>G , LRG_643:g.5438T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.245T>G MANE Select | ENSP00000370737.4:p.Leu82Trp | |
| ENST00000321612.6:c.245T>G | ENSP00000370737.3:p.Leu82Trp | |
| NM_000170.2:c.245T>G , LRG_643t1:c.245T>G | NP_000161.2:p.Leu82Trp | |
| XM_024447726.1:c.303-37A>C | XP_024303494.1:n.303-37A>C | |
| NM_000170.3:c.245T>G MANE Select | NP_000161.2:p.Leu82Trp |