Linked Data
ClinVar Variation Id:
1358884
ClinVar RCV Id:
RCV001904272
dbSNP Id:
rs372525072
ExAC:
3:190106122 A / T
gnomAD v2:
3-190106122-A-T
gnomAD v3:
3-190388333-A-T
gnomAD v4:
3-190388333-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388333A>T , CM000665.2:g.190388333A>T | GRCh38 |
| NC_000003.11:g.190106122A>T , CM000665.1:g.190106122A>T | GRCh37 |
| NC_000003.10:g.191588816A>T | NCBI36 |
| NG_008149.1:g.5282A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.4A>T MANE Select | ENSP00000264734.3:p.Arg2Trp | |
| ENST00000456423.2:c.4A>T | ENSP00000414136.2:p.Arg2Trp | |
| ENST00000264734.2:c.214A>T | ENSP00000264734.2:p.Arg72Trp | |
| ENST00000456423.1:c.214A>T | ENSP00000414136.1:p.Arg72Trp | |
| ENST00000468220.1:n.306+13730A>T | ||
| NM_006580.3:c.214A>T | NP_006571.1:p.Arg72Trp | |
| NM_001378492.1:c.4A>T | NP_001365421.1:p.Arg2Trp | |
| NM_001378493.1:c.4A>T | NP_001365422.1:p.Arg2Trp | |
| NM_006580.4:c.4A>T MANE Select | NP_006571.2:p.Arg2Trp |