Linked Data
ClinVar Variation Id:
234419
dbSNP Id:
rs752015385
ExAC:
19:1226494 C / T
gnomAD v2:
19-1226494-C-T
gnomAD v3:
19-1226495-C-T
gnomAD v4:
19-1226495-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226495C>T , CM000681.2:g.1226495C>T | GRCh38 |
| NC_000019.9:g.1226494C>T , CM000681.1:g.1226494C>T | GRCh37 |
| NC_000019.8:g.1177494C>T | NCBI36 |
| NG_007460.2:g.42089C>T , LRG_319:g.42089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2751C>T | ENSP00000490268.2:n.*2751C>T | |
| ENST00000585748.3:c.778C>T | ENSP00000477641.2:p.Arg260Trp | |
| ENST00000585851.2:c.976C>T | ENSP00000467912.2:p.Arg326Trp | |
| ENST00000326873.12:c.1150C>T MANE Select | ENSP00000324856.6:p.Arg384Trp | |
| ENST00000326873.11:c.1150C>T | ENSP00000324856.6:p.Arg384Trp | |
| ENST00000585465.2:n.2883C>T | ||
| ENST00000586243.5:c.1150C>T | ENSP00000467240.2:p.Arg384Trp | |
| ENST00000589152.5:n.1848C>T | ||
| NM_000455.4:c.1150C>T , LRG_319t1:c.1150C>T | NP_000446.1:p.Arg384Trp | |
| XM_005259617.1:c.1145C>T | XP_005259674.1:p.Pro382Leu | |
| XM_011528209.1:c.923C>T | XP_011526511.1:p.Pro308Leu | |
| XM_005259617.3:c.1145C>T | XP_005259674.1:p.Pro382Leu | |
| XM_011528209.2:c.923C>T | XP_011526511.1:p.Pro308Leu | |
| XR_001753738.2:n.1956C>T | ||
| XR_001753740.2:n.1926C>T | ||
| NM_000455.5:c.1150C>T MANE Select | NP_000446.1:p.Arg384Trp |