Linked Data
ClinVar Variation Id:
55980
ClinVar RCV Id:
RCV000049389
dbSNP Id:
rs386833462
PubMed:
PMID:19861545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107776662T>C , CM000669.2:g.107776662T>C | GRCh38 |
| NC_000007.13:g.107417107T>C , CM000669.1:g.107417107T>C | GRCh37 |
| NC_000007.12:g.107204343T>C | NCBI36 |
| NG_008046.1:g.31572A>G , LRG_683:g.31572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1559A>G MANE Select | ENSP00000345873.5:p.Tyr520Cys | |
| ENST00000340010.9:c.1559A>G | ENSP00000345873.5:p.Tyr520Cys | |
| ENST00000379083.7:c.*1350A>G | ENSP00000368375.3:n.*1350A>G | |
| ENST00000469651.1:n.91A>G | ||
| NM_000111.2:c.1559A>G , LRG_683t1:c.1559A>G | NP_000102.1:p.Tyr520Cys | |
| XM_011515867.1:c.1559A>G | XP_011514169.1:p.Tyr520Cys | |
| NM_000111.3:c.1559A>G MANE Select | NP_000102.1:p.Tyr520Cys |