Linked Data
ClinVar Variation Id:
95340
dbSNP Id:
rs34268261
ExAC:
21:47831845 G / A
gnomAD v2:
21-47831845-G-A
gnomAD v3:
21-46411931-G-A
gnomAD v4:
21-46411931-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46411931G>A , CM000683.2:g.46411931G>A | GRCh38 |
| NC_000021.8:g.47831845G>A , CM000683.1:g.47831845G>A | GRCh37 |
| NC_000021.7:g.46656273G>A | NCBI36 |
| NG_008961.1:g.92810G>A | |
| NG_008961.2:g.92810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695527.1:n.203G>A | ||
| ENST00000695528.1:c.32G>A | ENSP00000511990.1:p.Arg11His | |
| ENST00000695529.1:n.32G>A | ||
| ENST00000695558.1:c.5891G>A | ENSP00000512015.1:p.Arg1964His | |
| ENST00000703224.1:c.*5101G>A | ENSP00000515242.1:n.*5101G>A | |
| ENST00000359568.10:c.5858G>A MANE Select | ENSP00000352572.5:p.Arg1953His | |
| ENST00000359568.9:c.5858G>A | ENSP00000352572.5:p.Arg1953His | |
| ENST00000480896.5:n.6127G>A | ||
| NM_001315529.1:c.5504G>A | NP_001302458.1:p.Arg1835His | |
| NM_006031.5:c.5858G>A | NP_006022.3:p.Arg1953His | |
| XM_005261124.3:c.5891G>A | XP_005261181.1:p.Arg1964His | |
| XM_011529593.1:c.5969G>A | XP_011527895.1:p.Arg1990His | |
| XM_011529594.1:c.5939G>A | XP_011527896.1:p.Arg1980His | |
| XM_005261124.5:c.5891G>A | XP_005261181.1:p.Arg1964His | |
| XM_011529594.3:c.5939G>A | XP_011527896.1:p.Arg1980His | |
| XM_017028362.2:c.5858G>A | XP_016883851.1:p.Arg1953His | |
| XM_017028363.1:c.5537G>A | XP_016883852.1:p.Arg1846His | |
| XM_024452082.1:c.4775G>A | XP_024307850.1:p.Arg1592His | |
| XM_024452083.1:c.3671G>A | XP_024307851.1:p.Arg1224His | |
| NM_006031.6:c.5858G>A MANE Select | NP_006022.3:p.Arg1953His | |
| NM_001315529.2:c.5504G>A | NP_001302458.1:p.Arg1835His |