Linked Data
ClinVar Variation Id:
161532
ClinVar RCV Id:
RCV000149067
dbSNP Id:
rs193920870
COSMIC:
COSM1179913
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170361273A>T , CM000665.2:g.170361273A>T | GRCh38 |
| NC_000003.11:g.170079061A>T , CM000665.1:g.170079061A>T | GRCh37 |
| NC_000003.10:g.171561755A>T | NCBI36 |
| NG_030357.1:g.8589A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465590.2:c.942A>T | ENSP00000516712.1:p.Arg314Ser | |
| ENST00000259119.9:c.942A>T MANE Select | ENSP00000259119.4:p.Arg314Ser | |
| ENST00000259119.8:c.942A>T | ENSP00000259119.4:p.Arg314Ser | |
| ENST00000413427.6:c.942A>T | ENSP00000400193.2:p.Arg314Ser | |
| ENST00000426052.6:c.882A>T | ENSP00000406520.2:p.Arg294Ser | |
| ENST00000458537.7:c.942A>T | ENSP00000415243.3:p.Arg314Ser | |
| ENST00000470571.1:c.62A>T | ||
| NM_001145097.2:c.942A>T | NP_001138569.1:p.Arg314Ser | |
| NM_001145098.2:c.882A>T | NP_001138570.1:p.Arg294Ser | |
| NM_001248008.1:c.942A>T | NP_001234937.1:p.Arg314Ser | |
| NM_005414.4:c.942A>T | NP_005405.2:p.Arg314Ser | |
| XM_005247721.1:c.942A>T | XP_005247778.1:p.Arg314Ser | |
| XM_006713735.1:c.942A>T | XP_006713798.1:p.Arg314Ser | |
| XR_001740238.1:n.1107A>T | ||
| NM_005414.5:c.942A>T MANE Select | NP_005405.2:p.Arg314Ser | |
| NM_001145098.3:c.882A>T | NP_001138570.1:p.Arg294Ser |