Linked Data
ClinVar Variation Id:
10215
ClinVar RCV Id:
RCV000010928
dbSNP Id:
rs387906444
PubMed:
PMID:1924291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154965995T>C , CM000685.2:g.154965995T>C | GRCh38 |
| NC_000023.10:g.154194270T>C , CM000685.1:g.154194270T>C | GRCh37 |
| NC_000023.9:g.153847464T>C | NCBI36 |
| NG_011403.1:g.61729A>G | |
| NG_011403.2:g.61729A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1418A>G MANE Select | ENSP00000353393.4:p.Tyr473Cys | |
| ENST00000647125.1:c.*1294A>G | ENSP00000496062.1:n.*1294A>G | |
| ENST00000360256.8:c.1418A>G | ENSP00000353393.4:p.Tyr473Cys | |
| ENST00000483822.2:n.238A>G | ||
| NM_000132.3:c.1418A>G | NP_000123.1:p.Tyr473Cys | |
| XM_011531126.1:c.1313A>G | XP_011529428.1:p.Tyr438Cys | |
| NM_000132.4:c.1418A>G MANE Select | NP_000123.1:p.Tyr473Cys |