Linked Data
ClinVar Variation Id:
10172
ClinVar RCV Id:
RCV000010885
dbSNP Id:
rs137852389
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993139T>C , CM000685.2:g.154993139T>C | GRCh38 |
| NC_000023.10:g.154221414T>C , CM000685.1:g.154221414T>C | GRCh37 |
| NC_000023.9:g.153874608T>C | NCBI36 |
| NG_011403.1:g.34585A>G | |
| NG_011403.2:g.34585A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.398A>G MANE Select | ENSP00000353393.4:p.Tyr133Cys | |
| ENST00000647125.1:c.*184A>G | ENSP00000496062.1:n.*184A>G | |
| ENST00000360256.8:c.398A>G | ENSP00000353393.4:p.Tyr133Cys | |
| ENST00000423959.5:c.293A>G | ENSP00000409446.1:p.Tyr98Cys | |
| ENST00000453950.1:c.380A>G | ENSP00000389153.1:p.Tyr127Cys | |
| NM_000132.3:c.398A>G | NP_000123.1:p.Tyr133Cys | |
| XM_011531126.1:c.293A>G | XP_011529428.1:p.Tyr98Cys | |
| NM_000132.4:c.398A>G MANE Select | NP_000123.1:p.Tyr133Cys |