Linked Data
ClinVar Variation Id:
254250
ClinVar RCV Id:
RCV000240852
dbSNP Id:
rs886037933
PubMed:
PMID:27130255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225921311A>C , CM000663.2:g.225921311A>C | GRCh38 |
| NC_000001.10:g.226109011A>C , CM000663.1:g.226109011A>C | GRCh37 |
| NC_000001.9:g.224175634A>C | NCBI36 |
| NG_044963.1:g.8030T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343818.11:c.694T>G MANE Select | ENSP00000342502.6:p.Cys232Gly | |
| ENST00000343818.10:c.694T>G | ENSP00000342502.6:p.Cys232Gly | |
| ENST00000432920.2:c.472T>G | ENSP00000414068.2:p.Cys158Gly | |
| ENST00000446534.1:n.1252T>G | ||
| ENST00000466127.1:n.411T>G | ||
| ENST00000478402.5:n.2303T>G | ||
| ENST00000612039.4:c.472T>G | ENSP00000478165.1:p.Cys158Gly | |
| ENST00000612651.4:c.691T>G | ENSP00000482845.1:p.Cys231Gly | |
| NM_001271681.1:c.472T>G | NP_001258610.1:p.Cys158Gly | |
| NM_013328.3:c.694T>G | NP_037460.2:p.Cys232Gly | |
| NM_013328.4:c.694T>G MANE Select | NP_037460.2:p.Cys232Gly | |
| NM_001271681.2:c.472T>G | NP_001258610.1:p.Cys158Gly |