Linked Data
ClinVar Variation Id:
95339
dbSNP Id:
rs184420466
ExAC:
21:47831758 C / T
gnomAD v2:
21-47831758-C-T
gnomAD v3:
21-46411844-C-T
gnomAD v4:
21-46411844-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46411844C>T , CM000683.2:g.46411844C>T | GRCh38 |
| NC_000021.8:g.47831758C>T , CM000683.1:g.47831758C>T | GRCh37 |
| NC_000021.7:g.46656186C>T | NCBI36 |
| NG_008961.1:g.92723C>T | |
| NG_008961.2:g.92723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695527.1:n.116C>T | ||
| ENST00000695558.1:c.5804C>T | ENSP00000512015.1:p.Ala1935Val | |
| ENST00000703224.1:c.*5014C>T | ENSP00000515242.1:n.*5014C>T | |
| ENST00000359568.10:c.5771C>T MANE Select | ENSP00000352572.5:p.Ala1924Val | |
| ENST00000359568.9:c.5771C>T | ENSP00000352572.5:p.Ala1924Val | |
| ENST00000480896.5:n.6040C>T | ||
| NM_001315529.1:c.5417C>T | NP_001302458.1:p.Ala1806Val | |
| NM_006031.5:c.5771C>T | NP_006022.3:p.Ala1924Val | |
| XM_005261124.3:c.5804C>T | XP_005261181.1:p.Ala1935Val | |
| XM_011529593.1:c.5882C>T | XP_011527895.1:p.Ala1961Val | |
| XM_011529594.1:c.5852C>T | XP_011527896.1:p.Ala1951Val | |
| XM_005261124.5:c.5804C>T | XP_005261181.1:p.Ala1935Val | |
| XM_011529594.3:c.5852C>T | XP_011527896.1:p.Ala1951Val | |
| XM_017028362.2:c.5771C>T | XP_016883851.1:p.Ala1924Val | |
| XM_017028363.1:c.5450C>T | XP_016883852.1:p.Ala1817Val | |
| XM_024452082.1:c.4688C>T | XP_024307850.1:p.Ala1563Val | |
| XM_024452083.1:c.3584C>T | XP_024307851.1:p.Ala1195Val | |
| NM_006031.6:c.5771C>T MANE Select | NP_006022.3:p.Ala1924Val | |
| NM_001315529.2:c.5417C>T | NP_001302458.1:p.Ala1806Val |