Linked Data
ClinVar Variation Id:
859091
ClinVar RCV Id:
RCV001065120
dbSNP Id:
rs2030841425
gnomAD v4:
22-23834177-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23834177G>T , CM000684.2:g.23834177G>T | GRCh38 |
| NC_000022.10:g.24176364G>T , CM000684.1:g.24176364G>T | GRCh37 |
| NC_000022.9:g.22506364G>T | NCBI36 |
| NG_009303.1:g.52215G>T , LRG_520:g.52215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.1017G>T | ENSP00000263121.8:p.Trp339Cys | |
| ENST00000344921.11:c.1182G>T | ENSP00000340883.6:p.Trp394Cys | |
| ENST00000407422.8:c.1128G>T | ENSP00000383984.3:p.Trp376Cys | |
| ENST00000644036.2:c.1155G>T MANE Select | ENSP00000494049.2:p.Trp385Cys | |
| ENST00000644462.1:c.1873G>T | ENSP00000494283.1:n.1873G>T | |
| ENST00000645799.1:n.2477G>T | ||
| ENST00000646723.1:n.3501G>T | ||
| ENST00000647057.1:c.*649G>T | ENSP00000494757.1:n.*649G>T | |
| ENST00000263121.11:c.1155G>T | ENSP00000263121.7:p.Trp385Cys | |
| ENST00000344921.10:c.1182G>T | ENSP00000340883.6:p.Trp394Cys | |
| ENST00000407082.3:c.1017G>T | ENSP00000385226.3:p.Trp339Cys | |
| ENST00000407422.7:c.1128G>T | ENSP00000383984.3:p.Trp376Cys | |
| NM_001007468.1:c.1128G>T | NP_001007469.1:p.Trp376Cys | |
| NM_003073.3:c.1155G>T , LRG_520t1:c.1155G>T | NP_003064.2:p.Trp385Cys | |
| XM_011530345.1:c.1209G>T | XP_011528647.1:p.Trp403Cys | |
| XM_011530346.1:c.1182G>T | XP_011528648.1:p.Trp394Cys | |
| NM_001007468.2:c.1128G>T | NP_001007469.1:p.Trp376Cys | |
| NM_001317946.1:c.1182G>T | NP_001304875.1:p.Trp394Cys | |
| NM_001362877.1:c.1209G>T | NP_001349806.1:p.Trp403Cys | |
| NM_003073.4:c.1155G>T | NP_003064.2:p.Trp385Cys | |
| NM_001007468.3:c.1128G>T | NP_001007469.1:p.Trp376Cys | |
| NM_001317946.2:c.1182G>T | NP_001304875.1:p.Trp394Cys | |
| NM_001362877.2:c.1209G>T | NP_001349806.1:p.Trp403Cys | |
| NM_003073.5:c.1155G>T MANE Select | NP_003064.2:p.Trp385Cys |