Linked Data
ClinVar Variation Id:
12103
ClinVar RCV Id:
RCV000012885
dbSNP Id:
rs387906509
PubMed:
PMID:8892662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40979743T>A , CM000667.2:g.40979743T>A | GRCh38 |
| NC_000005.9:g.40979845T>A , CM000667.1:g.40979845T>A | GRCh37 |
| NC_000005.8:g.41015602T>A | NCBI36 |
| NG_011692.1:g.75247T>A , LRG_30:g.75247T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696333.1:c.2184T>A | ENSP00000512566.1:p.Cys728Ter | |
| ENST00000696441.1:c.2184T>A | ENSP00000512631.1:p.Cys728Ter | |
| ENST00000696442.1:n.118T>A | ||
| ENST00000706664.1:n.2298T>A | ||
| ENST00000706666.1:n.2241+2903T>A | ||
| ENST00000706667.1:n.3074T>A | ||
| ENST00000706668.1:n.2912T>A | ||
| ENST00000313164.10:c.2184T>A MANE Select | ENSP00000322061.9:p.Cys728Ter | |
| ENST00000313164.9:c.2184T>A | ENSP00000322061.9:p.Cys728Ter | |
| ENST00000464864.1:n.197T>A | ||
| ENST00000494960.5:n.184T>A | ||
| NM_000587.2:c.2184T>A , LRG_30t1:c.2184T>A | NP_000578.2:p.Cys728Ter | |
| XM_011514122.1:c.2184T>A | XP_011512424.1:p.Cys728Ter | |
| NM_000587.3:c.2184T>A | NP_000578.2:p.Cys728Ter | |
| NM_000587.4:c.2184T>A MANE Select | NP_000578.2:p.Cys728Ter |