Linked Data
ClinVar Variation Id:
162220
dbSNP Id:
rs724159945
CIViC:
CA175025
PubMed:
PMID:25581430
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11885968C>T , CM000674.2:g.11885968C>T | GRCh38 |
| NC_000012.11:g.12038902C>T , CM000674.1:g.12038902C>T | GRCh37 |
| NC_000012.10:g.11930169C>T | NCBI36 |
| NG_011443.1:g.241115C>T , LRG_609:g.241115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396373.9:c.1195C>T MANE Select | ENSP00000379658.3:p.Arg399Cys | |
| ENST00000266427.3:c.32C>T | ||
| ENST00000396373.8:c.1195C>T | ENSP00000379658.3:p.Arg399Cys | |
| NM_001987.4:c.1195C>T , LRG_609t1:c.1195C>T | NP_001978.1:p.Arg399Cys | |
| XM_011520607.1:c.1192C>T | XP_011518909.1:p.Arg398Cys | |
| XM_011520608.1:c.1168C>T | XP_011518910.1:p.Arg390Cys | |
| XM_011520609.1:c.931C>T | XP_011518911.1:p.Arg311Cys | |
| XM_011520610.1:c.931C>T | XP_011518912.1:p.Arg311Cys | |
| XM_011520611.1:c.931C>T | XP_011518913.1:p.Arg311Cys | |
| XM_011520612.1:c.574C>T | XP_011518914.1:p.Arg192Cys | |
| XM_011520607.2:c.1192C>T | XP_011518909.1:p.Arg398Cys | |
| XM_011520608.2:c.1168C>T | XP_011518910.1:p.Arg390Cys | |
| XM_011520609.2:c.931C>T | XP_011518911.1:p.Arg311Cys | |
| XM_011520611.2:c.931C>T | XP_011518913.1:p.Arg311Cys | |
| XM_011520612.2:c.574C>T | XP_011518914.1:p.Arg192Cys | |
| XM_017018990.1:c.1060C>T | XP_016874479.1:p.Arg354Cys | |
| XM_017018991.1:c.931C>T | XP_016874480.1:p.Arg311Cys | |
| NM_001987.5:c.1195C>T MANE Select | NP_001978.1:p.Arg399Cys |