Linked Data
ClinVar Variation Id:
436172
dbSNP Id:
rs112837071
ExAC:
21:47746375 G / C
gnomAD v2:
21-47746375-G-C
gnomAD v3:
21-46326461-G-C
gnomAD v4:
21-46326461-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46326461G>C , CM000683.2:g.46326461G>C | GRCh38 |
| NC_000021.8:g.47746375G>C , CM000683.1:g.47746375G>C | GRCh37 |
| NC_000021.7:g.46570803G>C | NCBI36 |
| NG_008961.1:g.7340G>C | |
| NG_008961.2:g.7340G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.139G>C | ENSP00000511987.1:p.Asp47His | |
| ENST00000695525.1:n.225G>C | ||
| ENST00000695526.1:c.139G>C | ENSP00000511988.1:p.Asp47His | |
| ENST00000695558.1:c.139G>C | ENSP00000512015.1:p.Asp47His | |
| ENST00000703224.1:c.139G>C | ENSP00000515242.1:p.Asp47His | |
| ENST00000703225.1:n.1574G>C | ||
| ENST00000359568.10:c.139G>C MANE Select | ENSP00000352572.5:p.Asp47His | |
| ENST00000652508.1:c.174G>C | ENSP00000498568.1:p.Ser58= | |
| ENST00000359568.9:c.139G>C | ENSP00000352572.5:p.Asp47His | |
| ENST00000480896.5:n.408G>C | ||
| ENST00000490468.5:n.227G>C | ||
| NM_001315529.1:c.-216G>C | NP_001302458.1:n.-216G>C | |
| NM_006031.5:c.139G>C | NP_006022.3:p.Asp47His | |
| XM_005261124.3:c.139G>C | XP_005261181.1:p.Asp47His | |
| XM_011529593.1:c.139G>C | XP_011527895.1:p.Asp47His | |
| XM_011529594.1:c.139G>C | XP_011527896.1:p.Asp47His | |
| XM_005261124.5:c.139G>C | XP_005261181.1:p.Asp47His | |
| XM_011529594.3:c.139G>C | XP_011527896.1:p.Asp47His | |
| XM_017028362.2:c.139G>C | XP_016883851.1:p.Asp47His | |
| XM_017028363.1:c.-216G>C | XP_016883852.1:n.-216G>C | |
| XM_024452083.1:c.-1970G>C | XP_024307851.1:n.-1970G>C | |
| NM_006031.6:c.139G>C MANE Select | NP_006022.3:p.Asp47His | |
| NM_001315529.2:c.-216G>C | NP_001302458.1:n.-216G>C |