Linked Data
ClinVar Variation Id:
2368229
ClinVar RCV Id:
RCV002997213
dbSNP Id:
rs759152117
ExAC:
1:201286829 C / T
gnomAD v2:
1-201286829-C-T
gnomAD v3:
1-201317701-C-T
gnomAD v4:
1-201317701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317701C>T , CM000663.2:g.201317701C>T | GRCh38 |
| NC_000001.10:g.201286829C>T , CM000663.1:g.201286829C>T | GRCh37 |
| NC_000001.9:g.199553452C>T | NCBI36 |
| NG_023337.1:g.39250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.976C>T MANE Select | ENSP00000356293.4:p.Arg326Trp | |
| ENST00000263946.7:c.976C>T | ENSP00000263946.3:p.Arg326Trp | |
| ENST00000352845.3:c.976C>T | ENSP00000295597.3:p.Arg326Trp | |
| ENST00000367324.7:c.976C>T | ENSP00000356293.3:p.Arg326Trp | |
| ENST00000475988.1:n.318C>T | ||
| ENST00000622031.4:c.973C>T | ENSP00000482213.1:p.Arg325Trp | |
| NM_000299.3:c.976C>T | NP_000290.2:p.Arg326Trp | |
| NM_001005337.2:c.976C>T | NP_001005337.1:p.Arg326Trp | |
| NM_001005337.3:c.976C>T MANE Select | NP_001005337.1:p.Arg326Trp | |
| NM_000299.4:c.976C>T | NP_000290.2:p.Arg326Trp |