Linked Data
ClinVar Variation Id:
402216
ClinVar RCV Id:
RCV000454236
dbSNP Id:
rs1060499777
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25764244A>C , CM000665.2:g.25764244A>C | GRCh38 |
| NC_000003.11:g.25805735A>C , CM000665.1:g.25805735A>C | GRCh37 |
| NC_000003.10:g.25780739A>C | NCBI36 |
| NG_034108.1:g.30796T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280700.10:c.314T>G MANE Select | ENSP00000280700.5:p.Ile105Ser | |
| ENST00000463611.2:c.*405T>G | ENSP00000501918.1:n.*405T>G | |
| ENST00000674841.1:n.406T>G | ||
| ENST00000675217.1:c.314T>G | ENSP00000502195.1:p.Ile105Ser | |
| ENST00000675234.1:c.314T>G | ENSP00000502740.1:p.Ile105Ser | |
| ENST00000676225.1:c.314T>G | ENSP00000501622.1:p.Ile105Ser | |
| ENST00000280699.13:c.288T>G | ||
| ENST00000280700.9:c.314T>G | ENSP00000280700.5:p.Ile105Ser | |
| ENST00000308710.9:c.305T>G | ENSP00000307980.5:p.Ile102Ser | |
| ENST00000396649.7:c.314T>G | ENSP00000379886.3:p.Ile105Ser | |
| ENST00000417874.6:c.188T>G | ENSP00000389888.2:p.Ile63Ser | |
| ENST00000427041.1:c.83T>G | ENSP00000412946.1:p.Ile28Ser | |
| ENST00000428257.5:c.314T>G | ENSP00000387430.1:p.Ile105Ser | |
| ENST00000461491.5:n.437T>G | ||
| ENST00000493324.5:n.338T>G | ||
| NM_001145293.1:c.314T>G | NP_001138765.1:p.Ile105Ser | |
| NM_001145294.1:c.188T>G | NP_001138766.1:p.Ile63Ser | |
| NM_001145295.1:c.314T>G | NP_001138767.1:p.Ile105Ser | |
| NM_018297.3:c.314T>G | NP_060767.2:p.Ile105Ser | |
| XM_005265316.1:c.314T>G | XP_005265373.1:p.Ile105Ser | |
| XM_005265317.1:c.314T>G | XP_005265374.1:p.Ile105Ser | |
| XM_011533944.1:c.83T>G | XP_011532246.1:p.Ile28Ser | |
| XM_011533945.1:c.314T>G | XP_011532247.1:p.Ile105Ser | |
| XR_940470.1:n.367T>G | ||
| XR_940471.1:n.367T>G | ||
| XM_017006839.2:c.314T>G | XP_016862328.1:p.Ile105Ser | |
| XR_001740200.2:n.367T>G | ||
| XR_002959548.1:n.367T>G | ||
| XR_940471.2:n.367T>G | ||
| NM_018297.4:c.314T>G MANE Select | NP_060767.2:p.Ile105Ser | |
| NM_001145293.2:c.314T>G | NP_001138765.1:p.Ile105Ser | |
| NM_001145294.2:c.188T>G | NP_001138766.1:p.Ile63Ser | |
| NM_001145295.2:c.314T>G | NP_001138767.1:p.Ile105Ser |