Linked Data
ClinVar Variation Id:
390183
dbSNP Id:
rs147673996
ExAC:
1:983221 C / T
gnomAD v2:
1-983221-C-T
gnomAD v3:
1-1047841-C-T
gnomAD v4:
1-1047841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1047841C>T , CM000663.2:g.1047841C>T | GRCh38 |
| NC_000001.10:g.983221C>T , CM000663.1:g.983221C>T | GRCh37 |
| NC_000001.9:g.973084C>T | NCBI36 |
| NG_016346.1:g.32719C>T , LRG_198:g.32719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3697C>T MANE Select | ENSP00000368678.2:p.Arg1233Trp | |
| ENST00000651234.1:c.3382C>T | ENSP00000499046.1:p.Arg1128Trp | |
| ENST00000652369.1:c.3382C>T | ENSP00000498543.1:p.Arg1128Trp | |
| ENST00000379370.6:c.3697C>T | ENSP00000368678.2:p.Arg1233Trp | |
| ENST00000466223.1:n.435C>T | ||
| ENST00000620552.4:c.3283C>T | ENSP00000484607.1:p.Arg1095Trp | |
| NM_001305275.1:c.3697C>T | NP_001292204.1:p.Arg1233Trp | |
| NM_198576.3:c.3697C>T | NP_940978.2:p.Arg1233Trp | |
| XM_005244749.2:c.3697C>T | XP_005244806.1:p.Arg1233Trp | |
| XM_006710635.2:c.3697C>T | XP_006710698.1:p.Arg1233Trp | |
| XM_011541429.1:c.3697C>T | XP_011539731.1:p.Arg1233Trp | |
| XM_011541430.1:c.2824C>T | XP_011539732.1:p.Arg942Trp | |
| XM_011541431.1:c.1963C>T | XP_011539733.1:p.Arg655Trp | |
| XR_946650.1:n.3764C>T | ||
| NM_001364727.1:c.3382C>T | NP_001351656.1:p.Arg1128Trp | |
| XM_005244749.3:c.3697C>T | XP_005244806.1:p.Arg1233Trp | |
| XM_011541429.2:c.3697C>T | XP_011539731.1:p.Arg1233Trp | |
| XR_946650.2:n.3768C>T | ||
| NM_001305275.2:c.3697C>T | NP_001292204.1:p.Arg1233Trp | |
| NM_198576.4:c.3697C>T MANE Select | NP_940978.2:p.Arg1233Trp | |
| NM_001364727.2:c.3382C>T | NP_001351656.1:p.Arg1128Trp |