Linked Data
ClinVar Variation Id:
50962
dbSNP Id:
rs201337954
ExAC:
3:25775422 T / A
gnomAD v2:
3-25775422-T-A
gnomAD v3:
3-25733931-T-A
gnomAD v4:
3-25733931-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25733931T>A , CM000665.2:g.25733931T>A | GRCh38 |
| NC_000003.11:g.25775422T>A , CM000665.1:g.25775422T>A | GRCh37 |
| NC_000003.10:g.25750426T>A | NCBI36 |
| NG_034108.1:g.61109A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280700.10:c.1201A>T MANE Select | ENSP00000280700.5:p.Arg401Ter | |
| ENST00000463611.2:c.*1292A>T | ENSP00000501918.1:n.*1292A>T | |
| ENST00000674841.1:n.1324A>T | ||
| ENST00000675178.1:n.219A>T | ||
| ENST00000675217.1:c.*574A>T | ENSP00000502195.1:n.*574A>T | |
| ENST00000675234.1:c.*698A>T | ENSP00000502740.1:n.*698A>T | |
| ENST00000675680.1:c.680A>T | ||
| ENST00000676225.1:c.1171A>T | ENSP00000501622.1:p.Arg391Ter | |
| ENST00000280699.13:c.952A>T | ||
| ENST00000280700.9:c.1201A>T | ENSP00000280700.5:p.Arg401Ter | |
| ENST00000308710.9:c.1138A>T | ENSP00000307980.5:p.Arg380Ter | |
| ENST00000396649.7:c.1201A>T | ENSP00000379886.3:p.Arg401Ter | |
| ENST00000417874.6:c.1075A>T | ENSP00000389888.2:p.Arg359Ter | |
| ENST00000428257.5:c.1147A>T | ENSP00000387430.1:p.Arg383Ter | |
| ENST00000467224.5:n.54A>T | ||
| ENST00000493324.5:n.2104A>T | ||
| ENST00000496726.5:n.2416A>T | ||
| NM_001145293.1:c.1147A>T | NP_001138765.1:p.Arg383Ter | |
| NM_001145294.1:c.1075A>T | NP_001138766.1:p.Arg359Ter | |
| NM_001145295.1:c.1201A>T | NP_001138767.1:p.Arg401Ter | |
| NM_018297.3:c.1201A>T | NP_060767.2:p.Arg401Ter | |
| XM_005265316.1:c.1201A>T | XP_005265373.1:p.Arg401Ter | |
| XM_005265317.1:c.1201A>T | XP_005265374.1:p.Arg401Ter | |
| XM_011533944.1:c.970A>T | XP_011532246.1:p.Arg324Ter | |
| XM_011533945.1:c.*44A>T | XP_011532247.1:n.*44A>T | |
| XR_940470.1:n.1254A>T | ||
| XR_940471.1:n.1346A>T | ||
| XM_017006839.2:c.1201A>T | XP_016862328.1:p.Arg401Ter | |
| XR_001740200.2:n.1346A>T | ||
| XR_002959548.1:n.1108A>T | ||
| XR_940471.2:n.1346A>T | ||
| NM_018297.4:c.1201A>T MANE Select | NP_060767.2:p.Arg401Ter | |
| NM_001145293.2:c.1147A>T | NP_001138765.1:p.Arg383Ter | |
| NM_001145294.2:c.1075A>T | NP_001138766.1:p.Arg359Ter | |
| NM_001145295.2:c.1201A>T | NP_001138767.1:p.Arg401Ter |