Linked Data
ClinVar Variation Id:
389883
dbSNP Id:
rs755156050
ExAC:
12:21981971 C / T
gnomAD v2:
12-21981971-C-T
gnomAD v3:
12-21829037-C-T
gnomAD v4:
12-21829037-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21829037C>T , CM000674.2:g.21829037C>T | GRCh38 |
| NC_000012.11:g.21981971C>T , CM000674.1:g.21981971C>T | GRCh37 |
| NC_000012.10:g.21873238C>T | NCBI36 |
| NG_012819.1:g.112658G>A , LRG_377:g.112658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.3590G>A | ENSP00000261201.4:p.Arg1197His | |
| ENST00000682068.1:c.3590G>A | ENSP00000507226.1:p.Arg1197His | |
| ENST00000682426.1:n.1167G>A | ||
| ENST00000682879.1:c.*2688G>A | ENSP00000508210.1:n.*2688G>A | |
| ENST00000683105.1:c.3590G>A | ENSP00000506801.1:p.Arg1197His | |
| ENST00000683676.1:c.3590G>A | ENSP00000508167.1:p.Arg1197His | |
| ENST00000683695.1:n.55G>A | ||
| ENST00000683811.1:n.3091G>A | ||
| ENST00000684084.1:c.3539G>A | ENSP00000507859.1:p.Arg1180His | |
| ENST00000261200.9:c.3590G>A MANE Select | ENSP00000261200.4:p.Arg1197His | |
| ENST00000261201.9:c.3590G>A | ENSP00000261201.4:p.Arg1197His | |
| ENST00000261200.8:c.3590G>A | ENSP00000261200.4:p.Arg1197His | |
| ENST00000261201.8:c.3590G>A | ENSP00000261201.4:p.Arg1197His | |
| ENST00000544039.5:c.2471G>A | ENSP00000440521.1:p.Arg824His | |
| NM_005691.3:c.3590G>A | NP_005682.2:p.Arg1197His | |
| NM_020297.3:c.3590G>A | NP_064693.2:p.Arg1197His | |
| XM_005253284.2:c.3590G>A | XP_005253341.1:p.Arg1197His | |
| XM_005253286.2:c.3590G>A | XP_005253343.1:p.Arg1197His | |
| XM_005253287.3:c.3590G>A | XP_005253344.1:p.Arg1197His | |
| XM_005253288.2:c.3590G>A | XP_005253345.1:p.Arg1197His | |
| XM_005253289.2:c.3551G>A | XP_005253346.1:p.Arg1184His | |
| XM_005253290.2:c.3449G>A | XP_005253347.1:p.Arg1150His | |
| XM_006719025.2:c.3551G>A | XP_006719088.1:p.Arg1184His | |
| XM_011520545.1:c.3590G>A | XP_011518847.1:p.Arg1197His | |
| XM_005253284.4:c.3590G>A | XP_005253341.1:p.Arg1197His | |
| XM_005253286.4:c.3590G>A | XP_005253343.1:p.Arg1197His | |
| XM_005253287.5:c.3590G>A | XP_005253344.1:p.Arg1197His | |
| XM_005253288.4:c.3590G>A | XP_005253345.1:p.Arg1197His | |
| XM_005253289.4:c.3551G>A | XP_005253346.1:p.Arg1184His | |
| XM_005253290.4:c.3449G>A | XP_005253347.1:p.Arg1150His | |
| XM_006719025.4:c.3551G>A | XP_006719088.1:p.Arg1184His | |
| XM_011520545.3:c.3590G>A | XP_011518847.1:p.Arg1197His | |
| NM_001377273.1:c.3590G>A | NP_001364202.1:p.Arg1197His | |
| NM_001377274.1:c.2723G>A | NP_001364203.1:p.Arg908His | |
| NM_005691.4:c.3590G>A | NP_005682.2:p.Arg1197His | |
| NM_020297.4:c.3590G>A MANE Select | NP_064693.2:p.Arg1197His |