Linked Data
ClinVar Variation Id:
56048
ClinVar RCV Id:
RCV000049457
dbSNP Id:
rs386833529
gnomAD v4:
9-6588629-T-C
PubMed:
PMID:20933183
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6588629T>C , CM000671.2:g.6588629T>C | GRCh38 |
| NC_000009.11:g.6588629T>C , CM000671.1:g.6588629T>C | GRCh37 |
| NC_000009.10:g.6578629T>C | NCBI36 |
| NG_016397.1:g.62064A>G , LRG_643:g.62064A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1654A>G MANE Select | ENSP00000370737.4:p.Met552Val | |
| ENST00000639364.1:n.1354A>G | ||
| ENST00000639443.1:n.1222A>G | ||
| ENST00000639954.1:n.1362A>G | ||
| ENST00000640592.1:n.1537A>G | ||
| ENST00000321612.6:c.1654A>G | ENSP00000370737.3:p.Met552Val | |
| NM_000170.2:c.1654A>G , LRG_643t1:c.1654A>G | NP_000161.2:p.Met552Val | |
| NM_000170.3:c.1654A>G MANE Select | NP_000161.2:p.Met552Val |