Linked Data
ClinVar Variation Id:
162620
dbSNP Id:
rs727502865
gnomAD v2:
13-96412327-C-T
gnomAD v3:
13-95760073-C-T
gnomAD v4:
13-95760073-C-T
COSMIC:
COSM1706929
PubMed:
PMID:25466870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95760073C>T , CM000675.2:g.95760073C>T | GRCh38 |
| NC_000013.10:g.96412327C>T , CM000675.1:g.96412327C>T | GRCh37 |
| NC_000013.9:g.95210328C>T | NCBI36 |
| NG_041830.1:g.87935C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000602402.6:c.580C>T MANE Select | ENSP00000473631.1:p.Arg194Ter | |
| ENST00000376795.6:c.427C>T | ENSP00000365991.6:p.Arg143Ter | |
| ENST00000602402.5:c.580C>T | ENSP00000473631.1:p.Arg194Ter | |
| NM_006260.4:c.580C>T | NP_006251.1:p.Arg194Ter | |
| XM_011521104.1:c.667C>T | XP_011519406.1:p.Arg223Ter | |
| XM_011521105.1:c.418C>T | XP_011519407.1:p.Arg140Ter | |
| XM_011521104.3:c.667C>T | XP_011519406.1:p.Arg223Ter | |
| XM_011521105.2:c.418C>T | XP_011519407.1:p.Arg140Ter | |
| XM_017020674.2:c.331C>T | XP_016876163.1:p.Arg111Ter | |
| XM_017020675.2:c.217C>T | XP_016876164.1:p.Arg73Ter | |
| NM_006260.5:c.580C>T MANE Select | NP_006251.1:p.Arg194Ter |