Linked Data
ClinVar Variation Id:
6695
ClinVar RCV Id:
RCV000007083
dbSNP Id:
rs104894609
PubMed:
PMID:10080184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594788G>T , CM000679.2:g.56594788G>T | GRCh38 |
| NC_000017.10:g.54672149G>T , CM000679.1:g.54672149G>T | GRCh37 |
| NC_000017.9:g.52027148G>T | NCBI36 |
| NG_011958.1:g.6090G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332822.6:c.565G>T MANE Select | ENSP00000328181.4:p.Gly189Cys | |
| ENST00000332822.4:c.565G>T | ENSP00000328181.4:p.Gly189Cys | |
| NM_005450.4:c.565G>T | NP_005441.1:p.Gly189Cys | |
| NM_005450.6:c.565G>T MANE Select | NP_005441.1:p.Gly189Cys |