Linked Data
ClinVar Variation Id:
142289
dbSNP Id:
rs535449626
ExAC:
19:1226491 C / T
gnomAD v2:
19-1226491-C-T
gnomAD v3:
19-1226492-C-T
gnomAD v4:
19-1226492-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226492C>T , CM000681.2:g.1226492C>T | GRCh38 |
| NC_000019.9:g.1226491C>T , CM000681.1:g.1226491C>T | GRCh37 |
| NC_000019.8:g.1177491C>T | NCBI36 |
| NG_007460.2:g.42086C>T , LRG_319:g.42086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2748C>T | ENSP00000490268.2:n.*2748C>T | |
| ENST00000585748.3:c.775C>T | ENSP00000477641.2:p.Arg259Cys | |
| ENST00000585851.2:c.973C>T | ENSP00000467912.2:p.Arg325Cys | |
| ENST00000326873.12:c.1147C>T MANE Select | ENSP00000324856.6:p.Arg383Cys | |
| ENST00000326873.11:c.1147C>T | ENSP00000324856.6:p.Arg383Cys | |
| ENST00000585465.2:n.2880C>T | ||
| ENST00000586243.5:c.1147C>T | ENSP00000467240.2:p.Arg383Cys | |
| ENST00000589152.5:n.1845C>T | ||
| NM_000455.4:c.1147C>T , LRG_319t1:c.1147C>T | NP_000446.1:p.Arg383Cys | |
| XM_005259617.1:c.1142C>T | XP_005259674.1:p.Ala381Val | |
| XM_011528209.1:c.920C>T | XP_011526511.1:p.Ala307Val | |
| XM_005259617.3:c.1142C>T | XP_005259674.1:p.Ala381Val | |
| XM_011528209.2:c.920C>T | XP_011526511.1:p.Ala307Val | |
| XR_001753738.2:n.1953C>T | ||
| XR_001753740.2:n.1923C>T | ||
| NM_000455.5:c.1147C>T MANE Select | NP_000446.1:p.Arg383Cys |