Linked Data
ClinVar Variation Id:
1311
dbSNP Id:
rs121909392
ExAC:
20:3208905 C / T
gnomAD v2:
20-3208905-C-T
gnomAD v4:
20-3228259-C-T
PubMed:
PMID:16825429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3228259C>T , CM000682.2:g.3228259C>T | GRCh38 |
| NC_000020.10:g.3208905C>T , CM000682.1:g.3208905C>T | GRCh37 |
| NC_000020.9:g.3156905C>T | NCBI36 |
| NG_017072.1:g.15983G>A | |
| NG_012093.2:g.24393C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642402.1:c.2558G>A MANE Select | ENSP00000493503.1:p.Arg853His | |
| ENST00000644011.1:c.2489G>A | ENSP00000496214.1:p.Arg830His | |
| ENST00000644692.1:c.2357G>A | ENSP00000493824.1:p.Arg786His | |
| ENST00000647296.1:c.2444G>A | ENSP00000495050.1:p.Arg815His | |
| ENST00000380056.7:c.2606G>A | ENSP00000369396.3:p.Arg869His | |
| ENST00000380059.7:c.2687G>A | ENSP00000369399.3:p.Arg896His | |
| ENST00000474451.5:c.*706G>A | ENSP00000476859.1:n.*706G>A | |
| ENST00000539553.6:c.2558G>A | ENSP00000441370.1:p.Arg853His | |
| NM_001174089.1:c.2558G>A | NP_001167560.1:p.Arg853His | |
| NM_001174090.1:c.2687G>A | NP_001167561.1:p.Arg896His | |
| NM_032034.3:c.2606G>A | NP_114423.1:p.Arg869His | |
| XM_005260856.3:c.2927G>A | XP_005260913.1:p.Arg976His | |
| XM_005260857.1:c.2501G>A | XP_005260914.1:p.Arg834His | |
| XM_011529383.1:c.2525G>A | XP_011527685.1:p.Arg842His | |
| XM_011529384.1:c.2501G>A | XP_011527686.1:p.Arg834His | |
| XM_011529385.1:c.2501G>A | XP_011527687.1:p.Arg834His | |
| XR_937167.1:n.2656G>A | ||
| NM_001363745.1:c.2444G>A | NP_001350674.1:p.Arg815His | |
| NR_135000.1:n.2656G>A | ||
| XM_005260856.5:c.2927G>A | XP_005260913.1:p.Arg976His | |
| XM_011529383.3:c.2525G>A | XP_011527685.1:p.Arg842His | |
| XM_017028093.1:c.2921G>A | XP_016883582.1:p.Arg974His | |
| XM_017028094.1:c.2501G>A | XP_016883583.1:p.Arg834His | |
| XM_017028096.1:c.2501G>A | XP_016883585.1:p.Arg834His | |
| XR_001754419.1:n.3101G>A | ||
| XR_001754420.2:n.3081G>A | ||
| NM_001174089.2:c.2558G>A MANE Select | NP_001167560.1:p.Arg853His | |
| NM_001363745.2:c.2444G>A | NP_001350674.1:p.Arg815His | |
| NM_001174090.2:c.2687G>A | NP_001167561.1:p.Arg896His | |
| NM_032034.4:c.2606G>A | NP_114423.1:p.Arg869His | |
| NM_001400277.1:c.2501G>A | NP_001387206.1:p.Arg834His | |
| NM_001400278.1:c.2501G>A | NP_001387207.1:p.Arg834His | |
| NM_001400279.1:c.2501G>A | NP_001387208.1:p.Arg834His | |
| NM_001400280.1:c.2573G>A | NP_001387209.1:p.Arg858His | |
| NR_174470.1:n.3081G>A | ||
| NR_174471.1:n.3066G>A |