Linked Data
ClinVar Variation Id:
256813
dbSNP Id:
rs1801028
ExAC:
11:113283484 G / C
gnomAD v2:
11-113283484-G-C
gnomAD v3:
11-113412762-G-C
gnomAD v4:
11-113412762-G-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113412762G>C , CM000673.2:g.113412762G>C | GRCh38 |
| NC_000011.9:g.113283484G>C , CM000673.1:g.113283484G>C | GRCh37 |
| NC_000011.8:g.112788694G>C | NCBI36 |
| NG_008841.1:g.67518C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362072.8:c.932C>G MANE Select | ENSP00000354859.3:p.Ser311Cys | |
| ENST00000346454.7:c.845C>G | ENSP00000278597.5:p.Ser282Cys | |
| ENST00000362072.7:c.932C>G | ENSP00000354859.3:p.Ser311Cys | |
| ENST00000538967.5:c.938C>G | ENSP00000438215.1:p.Ser313Cys | |
| ENST00000542968.5:c.932C>G | ENSP00000442172.1:p.Ser311Cys | |
| ENST00000544518.5:c.929C>G | ENSP00000441068.1:p.Ser310Cys | |
| NM_000795.3:c.932C>G | NP_000786.1:p.Ser311Cys | |
| NM_016574.3:c.845C>G | NP_057658.2:p.Ser282Cys | |
| XM_017017296.2:c.932C>G | XP_016872785.1:p.Ser311Cys | |
| NM_000795.4:c.932C>G MANE Select | NP_000786.1:p.Ser311Cys | |
| NM_016574.4:c.845C>G | NP_057658.2:p.Ser282Cys |