Linked Data
ClinVar Variation Id:
10116
ClinVar RCV Id:
RCV000010829
dbSNP Id:
rs137852362
PubMed:
PMID:2106480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928607T>C , CM000685.2:g.154928607T>C | GRCh38 |
| NC_000023.10:g.154156882T>C , CM000685.1:g.154156882T>C | GRCh37 |
| NC_000023.9:g.153810076T>C | NCBI36 |
| NG_011403.1:g.99117A>G | |
| NG_011403.2:g.99117A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5183A>G MANE Select | ENSP00000353393.4:p.Tyr1728Cys | |
| ENST00000360256.8:c.5183A>G | ENSP00000353393.4:p.Tyr1728Cys | |
| NM_000132.3:c.5183A>G | NP_000123.1:p.Tyr1728Cys | |
| XM_011531126.1:c.5078A>G | XP_011529428.1:p.Tyr1693Cys | |
| NM_000132.4:c.5183A>G MANE Select | NP_000123.1:p.Tyr1728Cys |