Linked Data
ClinVar Variation Id:
6992
ClinVar RCV Id:
RCV000007408
dbSNP Id:
rs104894449
PubMed:
PMID:11228641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49622285T>A , CM000676.2:g.49622285T>A | GRCh38 |
| NC_000014.8:g.50089003T>A , CM000676.1:g.50089003T>A | GRCh37 |
| NC_000014.7:g.49158753T>A | NCBI36 |
| NG_008920.1:g.6515T>A | |
| NG_033054.1:g.3347A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305386.4:c.1017T>A MANE Select | ENSP00000307423.2:p.Cys339Ter | |
| ENST00000305386.3:c.1017T>A | ENSP00000307423.2:p.Cys339Ter | |
| NM_002408.3:c.1017T>A | NP_002399.1:p.Cys339Ter | |
| NM_002408.4:c.1017T>A MANE Select | NP_002399.1:p.Cys339Ter |