Linked Data
ClinVar Variation Id:
3652
dbSNP Id:
rs267606740
ExAC:
16:70515300 G / A
gnomAD v2:
16-70515300-G-A
gnomAD v3:
16-70481397-G-A
gnomAD v4:
16-70481397-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481397G>A , CM000678.2:g.70481397G>A | GRCh38 |
| NC_000016.9:g.70515300G>A , CM000678.1:g.70515300G>A | GRCh37 |
| NC_000016.8:g.69072801G>A | NCBI36 |
| NG_027529.1:g.47158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2273C>T | ENSP00000461912.2:n.*2273C>T | |
| ENST00000703106.1:c.2242C>T | ENSP00000515173.1:n.2242C>T | |
| ENST00000703107.1:c.*2126C>T | ENSP00000515174.1:n.*2126C>T | |
| ENST00000703108.1:c.*645C>T | ENSP00000515175.1:n.*645C>T | |
| ENST00000703109.1:c.2230C>T | ENSP00000515176.1:p.Arg744Trp | |
| ENST00000703110.1:c.*1699C>T | ENSP00000515177.1:n.*1699C>T | |
| ENST00000703111.1:n.2480C>T | ||
| ENST00000703112.1:n.3141C>T | ||
| ENST00000703113.1:c.*1610C>T | ENSP00000515178.1:n.*1610C>T | |
| ENST00000703114.1:c.*846C>T | ENSP00000515179.1:n.*846C>T | |
| ENST00000703115.1:c.1310C>T | ENSP00000515180.1:n.1310C>T | |
| ENST00000323786.10:c.2197C>T MANE Select | ENSP00000315775.5:p.Arg733Trp | |
| ENST00000564415.6:c.*1977C>T | ENSP00000456653.2:n.*1977C>T | |
| ENST00000674443.1:c.2122C>T | ENSP00000501405.1:p.Arg708Trp | |
| ENST00000323786.9:c.2197C>T | ENSP00000315775.5:p.Arg733Trp | |
| ENST00000393612.8:c.2134C>T | ENSP00000377236.5:p.Arg712Trp | |
| ENST00000482252.5:c.2344C>T | ENSP00000432802.1:n.2344C>T | |
| ENST00000526700.5:n.1373C>T | ||
| ENST00000530314.5:n.2876C>T | ||
| ENST00000564415.5:c.*1977C>T | ENSP00000456653.1:n.*1977C>T | |
| ENST00000565715.1:c.259C>T | ENSP00000455693.1:p.Arg87Trp | |
| NM_001195139.1:c.2134C>T | NP_001182068.1:p.Arg712Trp | |
| NM_015386.2:c.2197C>T | NP_056201.2:p.Arg733Trp | |
| XM_011522981.1:c.1771C>T | XP_011521283.1:p.Arg591Trp | |
| XM_011522981.3:c.1771C>T | XP_011521283.1:p.Arg591Trp | |
| XM_024450224.1:c.1216C>T | XP_024305992.1:p.Arg406Trp | |
| XR_933266.2:n.2143C>T | ||
| NM_015386.3:c.2197C>T MANE Select | NP_056201.2:p.Arg733Trp | |
| NM_001195139.2:c.2122C>T | NP_001182068.2:p.Arg708Trp | |
| NM_001365426.1:c.1771C>T | NP_001352355.1:p.Arg591Trp | |
| NR_158212.1:n.2156C>T |