Linked Data
ClinVar Variation Id:
12111
ClinVar RCV Id:
RCV000012894
dbSNP Id:
rs121964922
PubMed:
PMID:16771861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40958230T>A , CM000667.2:g.40958230T>A | GRCh38 |
| NC_000005.9:g.40958332T>A , CM000667.1:g.40958332T>A | GRCh37 |
| NC_000005.8:g.40994089T>A | NCBI36 |
| NG_011692.1:g.53734T>A , LRG_30:g.53734T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696333.1:c.1458T>A | ENSP00000512566.1:p.Cys486Ter | |
| ENST00000696441.1:c.1458T>A | ENSP00000512631.1:p.Cys486Ter | |
| ENST00000706664.1:n.1572T>A | ||
| ENST00000706666.1:n.1534T>A | ||
| ENST00000706667.1:n.2348T>A | ||
| ENST00000706668.1:n.2186T>A | ||
| ENST00000313164.10:c.1458T>A MANE Select | ENSP00000322061.9:p.Cys486Ter | |
| ENST00000313164.9:c.1458T>A | ENSP00000322061.9:p.Cys486Ter | |
| NM_000587.2:c.1458T>A , LRG_30t1:c.1458T>A | NP_000578.2:p.Cys486Ter | |
| XM_011514122.1:c.1458T>A | XP_011512424.1:p.Cys486Ter | |
| NM_000587.3:c.1458T>A | NP_000578.2:p.Cys486Ter | |
| NM_000587.4:c.1458T>A MANE Select | NP_000578.2:p.Cys486Ter |