Linked Data
ClinVar Variation Id:
438391
dbSNP Id:
rs757460628
ExAC:
19:10250860 C / T
gnomAD v2:
19-10250860-C-T
gnomAD v3:
19-10140184-C-T
gnomAD v4:
19-10140184-C-T
COSMIC:
COSM990437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10140184C>T , CM000681.2:g.10140184C>T | GRCh38 |
| NC_000019.9:g.10250860C>T , CM000681.1:g.10250860C>T | GRCh37 |
| NC_000019.8:g.10111860C>T | NCBI36 |
| NG_028016.3:g.96103G>A , LRG_362:g.96103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.3668G>A MANE Select | ENSP00000352516.3:p.Arg1223His | |
| ENST00000586667.2:n.1703G>A | ||
| ENST00000589351.6:n.1556G>A | ||
| ENST00000676604.1:n.3280G>A | ||
| ENST00000676610.1:c.3620G>A | ENSP00000504236.1:p.Arg1207His | |
| ENST00000676820.1:n.4514G>A | ||
| ENST00000676868.1:n.4304G>A | ||
| ENST00000677013.1:c.*3310G>A | ENSP00000503135.1:n.*3310G>A | |
| ENST00000677250.1:c.*2740G>A | ENSP00000502894.1:n.*2740G>A | |
| ENST00000677616.1:c.3311G>A | ENSP00000503055.1:p.Arg1104His | |
| ENST00000677634.1:c.*223G>A | ENSP00000504246.1:n.*223G>A | |
| ENST00000677685.1:c.*2845G>A | ENSP00000503407.1:n.*2845G>A | |
| ENST00000677783.1:n.4928G>A | ||
| ENST00000677946.1:c.3620G>A | ENSP00000504202.1:p.Arg1207His | |
| ENST00000678024.1:n.4601G>A | ||
| ENST00000678107.1:n.435G>A | ||
| ENST00000678239.1:n.284G>A | ||
| ENST00000678647.1:n.1753G>A | ||
| ENST00000678694.1:n.2941G>A | ||
| ENST00000678804.1:c.3620G>A | ENSP00000503853.1:p.Arg1207His | |
| ENST00000678957.1:n.1104G>A | ||
| ENST00000679100.1:n.1807G>A | ||
| ENST00000679103.1:c.3620G>A | ENSP00000503151.1:p.Arg1207His | |
| ENST00000679313.1:c.3620G>A | ENSP00000504512.1:p.Arg1207His | |
| ENST00000340748.8:c.3620G>A | ENSP00000345739.3:p.Arg1207His | |
| ENST00000359526.8:c.3668G>A | ENSP00000352516.3:p.Arg1223His | |
| ENST00000540357.5:c.2612G>A | ENSP00000440457.2:p.Arg871His | |
| ENST00000586588.5:n.1541G>A | ||
| ENST00000587197.1:n.12G>A | ||
| ENST00000589538.5:n.544-139G>A | ||
| ENST00000592705.5:c.*3358G>A | ENSP00000466657.1:n.*3358G>A | |
| NM_001130823.1:c.3668G>A , LRG_362t1:c.3668G>A | NP_001124295.1:p.Arg1223His | |
| NM_001379.2:c.3620G>A | NP_001370.1:p.Arg1207His | |
| XM_011527772.1:c.3668G>A | XP_011526074.1:p.Arg1223His | |
| XM_011527773.1:c.3620G>A | XP_011526075.1:p.Arg1207His | |
| XM_011527774.1:c.3257G>A | XP_011526076.1:p.Arg1086His | |
| NM_001130823.2:c.3668G>A | NP_001124295.1:p.Arg1223His | |
| NM_001318730.1:c.3620G>A | NP_001305659.1:p.Arg1207His | |
| NM_001318731.1:c.3305G>A | NP_001305660.1:p.Arg1102His | |
| NM_001379.3:c.3620G>A | NP_001370.1:p.Arg1207His | |
| NM_001130823.3:c.3668G>A MANE Select | NP_001124295.1:p.Arg1223His | |
| NM_001318730.2:c.3620G>A | NP_001305659.1:p.Arg1207His | |
| NM_001318731.2:c.3305G>A | NP_001305660.1:p.Arg1102His | |
| NM_001379.4:c.3620G>A | NP_001370.1:p.Arg1207His |