Linked Data
ClinVar Variation Id:
55962
ClinVar RCV Id:
RCV000049371
dbSNP Id:
rs386833444
PubMed:
PMID:21394828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107783296C>T , CM000669.2:g.107783296C>T | GRCh38 |
| NC_000007.13:g.107423741C>T , CM000669.1:g.107423741C>T | GRCh37 |
| NC_000007.12:g.107210977C>T | NCBI36 |
| NG_008046.1:g.24938G>A , LRG_683:g.24938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1028G>A MANE Select | ENSP00000345873.5:p.Cys343Tyr | |
| ENST00000340010.9:c.1028G>A | ENSP00000345873.5:p.Cys343Tyr | |
| ENST00000379083.7:c.*819G>A | ENSP00000368375.3:n.*819G>A | |
| ENST00000468551.1:n.306G>A | ||
| NM_000111.2:c.1028G>A , LRG_683t1:c.1028G>A | NP_000102.1:p.Cys343Tyr | |
| XM_011515867.1:c.1028G>A | XP_011514169.1:p.Cys343Tyr | |
| NM_000111.3:c.1028G>A MANE Select | NP_000102.1:p.Cys343Tyr |