Linked Data
ClinVar Variation Id:
1412075
ClinVar RCV Id:
RCV001918988
dbSNP Id:
rs376459511
gnomAD v3:
3-25737421-A-G
gnomAD v4:
3-25737421-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25737421A>G , CM000665.2:g.25737421A>G | GRCh38 |
| NC_000003.11:g.25778912A>G , CM000665.1:g.25778912A>G | GRCh37 |
| NC_000003.10:g.25753916A>G | NCBI36 |
| NG_034108.1:g.57619T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280700.10:c.916T>C MANE Select | ENSP00000280700.5:p.Cys306Arg | |
| ENST00000463611.2:c.*1007T>C | ENSP00000501918.1:n.*1007T>C | |
| ENST00000674841.1:n.1039T>C | ||
| ENST00000675178.1:n.168-3439T>C | ||
| ENST00000675217.1:c.*289T>C | ENSP00000502195.1:n.*289T>C | |
| ENST00000675234.1:c.*413T>C | ENSP00000502740.1:n.*413T>C | |
| ENST00000675680.1:c.391-1021T>C | ||
| ENST00000676225.1:c.882-1021T>C | ENSP00000501622.1:n.882-1021T>C | |
| ENST00000280699.13:c.667T>C | ||
| ENST00000280700.9:c.916T>C | ENSP00000280700.5:p.Cys306Arg | |
| ENST00000308710.9:c.907T>C | ENSP00000307980.5:p.Cys303Arg | |
| ENST00000396649.7:c.916T>C | ENSP00000379886.3:p.Cys306Arg | |
| ENST00000417874.6:c.790T>C | ENSP00000389888.2:p.Cys264Arg | |
| ENST00000428257.5:c.916T>C | ENSP00000387430.1:p.Cys306Arg | |
| ENST00000493324.5:n.940T>C | ||
| NM_001145293.1:c.916T>C | NP_001138765.1:p.Cys306Arg | |
| NM_001145294.1:c.790T>C | NP_001138766.1:p.Cys264Arg | |
| NM_001145295.1:c.916T>C | NP_001138767.1:p.Cys306Arg | |
| NM_018297.3:c.916T>C | NP_060767.2:p.Cys306Arg | |
| XM_005265316.1:c.916T>C | XP_005265373.1:p.Cys306Arg | |
| XM_005265317.1:c.916T>C | XP_005265374.1:p.Cys306Arg | |
| XM_011533944.1:c.685T>C | XP_011532246.1:p.Cys229Arg | |
| XM_011533945.1:c.916T>C | XP_011532247.1:p.Cys306Arg | |
| XR_940470.1:n.969T>C | ||
| XR_940471.1:n.969T>C | ||
| XM_017006839.2:c.916T>C | XP_016862328.1:p.Cys306Arg | |
| XR_001740200.2:n.969T>C | ||
| XR_002959548.1:n.969T>C | ||
| XR_940471.2:n.969T>C | ||
| NM_018297.4:c.916T>C MANE Select | NP_060767.2:p.Cys306Arg | |
| NM_001145293.2:c.916T>C | NP_001138765.1:p.Cys306Arg | |
| NM_001145294.2:c.790T>C | NP_001138766.1:p.Cys264Arg | |
| NM_001145295.2:c.916T>C | NP_001138767.1:p.Cys306Arg |