Linked Data
ClinVar Variation Id:
10216
ClinVar RCV Id:
RCV000010929
dbSNP Id:
rs137852413
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154961131A>G , CM000685.2:g.154961131A>G | GRCh38 |
| NC_000023.10:g.154189406A>G , CM000685.1:g.154189406A>G | GRCh37 |
| NC_000023.9:g.153842600A>G | NCBI36 |
| NG_011403.1:g.66593T>C | |
| NG_011403.2:g.66593T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1481T>C MANE Select | ENSP00000353393.4:p.Ile494Thr | |
| ENST00000647125.1:c.*1357T>C | ENSP00000496062.1:n.*1357T>C | |
| ENST00000360256.8:c.1481T>C | ENSP00000353393.4:p.Ile494Thr | |
| NM_000132.3:c.1481T>C | NP_000123.1:p.Ile494Thr | |
| XM_011531126.1:c.1376T>C | XP_011529428.1:p.Ile459Thr | |
| NM_000132.4:c.1481T>C MANE Select | NP_000123.1:p.Ile494Thr |