Linked Data
ClinVar Variation Id:
491395
dbSNP Id:
rs770826575
ExAC:
13:32972633 T / G
gnomAD v2:
13-32972633-T-G
gnomAD v3:
13-32398496-T-G
gnomAD v4:
13-32398496-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398496T>G , CM000675.2:g.32398496T>G | GRCh38 |
| NC_000013.10:g.32972633T>G , CM000675.1:g.32972633T>G | GRCh37 |
| NC_000013.9:g.31870633T>G | NCBI36 |
| NG_012772.3:g.88017T>G , LRG_293:g.88017T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*506T>G | ENSP00000434898.2:n.*506T>G | |
| ENST00000528762.2:c.*1350T>G | ENSP00000433168.2:n.*1350T>G | |
| ENST00000530893.7:c.9614T>G | ENSP00000499438.2:p.Phe3205Cys | |
| ENST00000665585.2:c.*1545T>G | ENSP00000499570.2:n.*1545T>G | |
| ENST00000700202.2:c.9932T>G | ENSP00000514856.2:p.Phe3311Cys | |
| ENST00000700202.1:c.2399T>G | ENSP00000514856.1:p.Phe800Cys | |
| ENST00000700203.1:n.2110T>G | ||
| ENST00000380152.8:c.9983T>G MANE Select | ENSP00000369497.3:p.Phe3328Cys | |
| ENST00000544455.6:c.9983T>G | ENSP00000439902.1:p.Phe3328Cys | |
| ENST00000614259.2:c.9991T>G | ENSP00000506251.1:n.9991T>G | |
| ENST00000680887.1:c.9983T>G | ENSP00000505508.1:p.Phe3328Cys | |
| ENST00000380152.7:c.9983T>G | ENSP00000369497.3:p.Phe3328Cys | |
| ENST00000544455.5:c.9983T>G | ENSP00000439902.1:p.Phe3328Cys | |
| NM_000059.3:c.9983T>G , LRG_293t1:c.9983T>G | NP_000050.2:p.Phe3328Cys | |
| XM_011535203.1:c.9983T>G | XP_011533505.1:p.Phe3328Cys | |
| XM_011535204.1:c.9887T>G | XP_011533506.1:p.Phe3296Cys | |
| NM_000059.4:c.9983T>G MANE Select | NP_000050.3:p.Phe3328Cys |