Linked Data
ClinVar Variation Id:
387659
dbSNP Id:
rs767625587
ExAC:
21:47786880 T / C
gnomAD v2:
21-47786880-T-C
gnomAD v3:
21-46366965-T-C
gnomAD v4:
21-46366965-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46366965T>C , CM000683.2:g.46366965T>C | GRCh38 |
| NC_000021.8:g.47786880T>C , CM000683.1:g.47786880T>C | GRCh37 |
| NC_000021.7:g.46611308T>C | NCBI36 |
| NG_008961.1:g.47845T>C | |
| NG_008961.2:g.47844T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*1487T>C | ENSP00000511987.1:n.*1487T>C | |
| ENST00000695525.1:n.3077T>C | ||
| ENST00000695558.1:c.2991T>C | ENSP00000512015.1:p.Phe997= | |
| ENST00000703224.1:c.*2234T>C | ENSP00000515242.1:n.*2234T>C | |
| ENST00000359568.10:c.2991T>C MANE Select | ENSP00000352572.5:p.Phe997= | |
| ENST00000359568.9:c.2991T>C | ENSP00000352572.5:p.Phe997= | |
| ENST00000480896.5:n.3260T>C | ||
| NM_001315529.1:c.2637T>C | NP_001302458.1:p.Phe879= | |
| NM_006031.5:c.2991T>C | NP_006022.3:p.Phe997= | |
| XM_005261124.3:c.2991T>C | XP_005261181.1:p.Phe997= | |
| XM_011529593.1:c.3072T>C | XP_011527895.1:p.Phe1024= | |
| XM_011529594.1:c.3072T>C | XP_011527896.1:p.Phe1024= | |
| XM_005261124.5:c.2991T>C | XP_005261181.1:p.Phe997= | |
| XM_011529594.3:c.3072T>C | XP_011527896.1:p.Phe1024= | |
| XM_017028362.2:c.2991T>C | XP_016883851.1:p.Phe997= | |
| XM_017028363.1:c.2637T>C | XP_016883852.1:p.Phe879= | |
| XM_024452082.1:c.1875T>C | XP_024307850.1:p.Phe625= | |
| XM_024452083.1:c.771T>C | XP_024307851.1:p.Phe257= | |
| NM_006031.6:c.2991T>C MANE Select | NP_006022.3:p.Phe997= | |
| NM_001315529.2:c.2637T>C | NP_001302458.1:p.Phe879= |