Linked Data
ClinVar Variation Id:
1309
dbSNP Id:
rs121909391
ExAC:
20:3208906 G / A
gnomAD v2:
20-3208906-G-A
gnomAD v4:
20-3228260-G-A
PubMed:
PMID:18024964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3228260G>A , CM000682.2:g.3228260G>A | GRCh38 |
| NC_000020.10:g.3208906G>A , CM000682.1:g.3208906G>A | GRCh37 |
| NC_000020.9:g.3156906G>A | NCBI36 |
| NG_017072.1:g.15982C>T | |
| NG_012093.2:g.24394G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642402.1:c.2557C>T MANE Select | ENSP00000493503.1:p.Arg853Cys | |
| ENST00000644011.1:c.2488C>T | ENSP00000496214.1:p.Arg830Cys | |
| ENST00000644692.1:c.2356C>T | ENSP00000493824.1:p.Arg786Cys | |
| ENST00000647296.1:c.2443C>T | ENSP00000495050.1:p.Arg815Cys | |
| ENST00000380056.7:c.2605C>T | ENSP00000369396.3:p.Arg869Cys | |
| ENST00000380059.7:c.2686C>T | ENSP00000369399.3:p.Arg896Cys | |
| ENST00000474451.5:c.*705C>T | ENSP00000476859.1:n.*705C>T | |
| ENST00000539553.6:c.2557C>T | ENSP00000441370.1:p.Arg853Cys | |
| NM_001174089.1:c.2557C>T | NP_001167560.1:p.Arg853Cys | |
| NM_001174090.1:c.2686C>T | NP_001167561.1:p.Arg896Cys | |
| NM_032034.3:c.2605C>T | NP_114423.1:p.Arg869Cys | |
| XM_005260856.3:c.2926C>T | XP_005260913.1:p.Arg976Cys | |
| XM_005260857.1:c.2500C>T | XP_005260914.1:p.Arg834Cys | |
| XM_011529383.1:c.2524C>T | XP_011527685.1:p.Arg842Cys | |
| XM_011529384.1:c.2500C>T | XP_011527686.1:p.Arg834Cys | |
| XM_011529385.1:c.2500C>T | XP_011527687.1:p.Arg834Cys | |
| XR_937167.1:n.2655C>T | ||
| NM_001363745.1:c.2443C>T | NP_001350674.1:p.Arg815Cys | |
| NR_135000.1:n.2655C>T | ||
| XM_005260856.5:c.2926C>T | XP_005260913.1:p.Arg976Cys | |
| XM_011529383.3:c.2524C>T | XP_011527685.1:p.Arg842Cys | |
| XM_017028093.1:c.2920C>T | XP_016883582.1:p.Arg974Cys | |
| XM_017028094.1:c.2500C>T | XP_016883583.1:p.Arg834Cys | |
| XM_017028096.1:c.2500C>T | XP_016883585.1:p.Arg834Cys | |
| XR_001754419.1:n.3100C>T | ||
| XR_001754420.2:n.3080C>T | ||
| NM_001174089.2:c.2557C>T MANE Select | NP_001167560.1:p.Arg853Cys | |
| NM_001363745.2:c.2443C>T | NP_001350674.1:p.Arg815Cys | |
| NM_001174090.2:c.2686C>T | NP_001167561.1:p.Arg896Cys | |
| NM_032034.4:c.2605C>T | NP_114423.1:p.Arg869Cys | |
| NM_001400277.1:c.2500C>T | NP_001387206.1:p.Arg834Cys | |
| NM_001400278.1:c.2500C>T | NP_001387207.1:p.Arg834Cys | |
| NM_001400279.1:c.2500C>T | NP_001387208.1:p.Arg834Cys | |
| NM_001400280.1:c.2572C>T | NP_001387209.1:p.Arg858Cys | |
| NR_174470.1:n.3080C>T | ||
| NR_174471.1:n.3065C>T |