Linked Data
dbSNP Id:
rs1018456666
gnomAD v2:
16-70517830-G-A
gnomAD v3:
16-70483927-G-A
gnomAD v4:
16-70483927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483927G>A , CM000678.2:g.70483927G>A | GRCh38 |
| NC_000016.9:g.70517830G>A , CM000678.1:g.70517830G>A | GRCh37 |
| NC_000016.8:g.69075331G>A | NCBI36 |
| NG_027529.1:g.44628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1829C>T | ENSP00000461912.2:n.*1829C>T | |
| ENST00000703106.1:c.1798C>T | ENSP00000515173.1:n.1798C>T | |
| ENST00000703107.1:c.*1682C>T | ENSP00000515174.1:n.*1682C>T | |
| ENST00000703108.1:c.*201C>T | ENSP00000515175.1:n.*201C>T | |
| ENST00000703109.1:c.1786C>T | ENSP00000515176.1:p.Gln596Ter | |
| ENST00000703110.1:c.*1255C>T | ENSP00000515177.1:n.*1255C>T | |
| ENST00000703111.1:n.1760C>T | ||
| ENST00000703112.1:n.2526C>T | ||
| ENST00000703113.1:c.*1166C>T | ENSP00000515178.1:n.*1166C>T | |
| ENST00000703114.1:c.*402C>T | ENSP00000515179.1:n.*402C>T | |
| ENST00000703115.1:c.866C>T | ENSP00000515180.1:n.866C>T | |
| ENST00000323786.10:c.1753C>T MANE Select | ENSP00000315775.5:p.Gln585Ter | |
| ENST00000564415.6:c.*1533C>T | ENSP00000456653.2:n.*1533C>T | |
| ENST00000674443.1:c.1678C>T | ENSP00000501405.1:p.Gln560Ter | |
| ENST00000323786.9:c.1753C>T | ENSP00000315775.5:p.Gln585Ter | |
| ENST00000393612.8:c.1690C>T | ENSP00000377236.5:p.Gln564Ter | |
| ENST00000482252.5:c.1900C>T | ENSP00000432802.1:n.1900C>T | |
| ENST00000526700.5:n.929C>T | ||
| ENST00000530314.5:n.2432C>T | ||
| ENST00000564315.1:n.213C>T | ||
| ENST00000564415.5:c.*1533C>T | ENSP00000456653.1:n.*1533C>T | |
| NM_001195139.1:c.1690C>T | NP_001182068.1:p.Gln564Ter | |
| NM_015386.2:c.1753C>T | NP_056201.2:p.Gln585Ter | |
| XM_011522981.1:c.1327C>T | XP_011521283.1:p.Gln443Ter | |
| XR_933266.1:n.1699C>T | ||
| XR_933267.1:n.1699C>T | ||
| XM_011522981.3:c.1327C>T | XP_011521283.1:p.Gln443Ter | |
| XM_024450224.1:c.772C>T | XP_024305992.1:p.Gln258Ter | |
| XR_001751889.1:n.1636C>T | ||
| XR_933266.2:n.1699C>T | ||
| NM_015386.3:c.1753C>T MANE Select | NP_056201.2:p.Gln585Ter | |
| NM_001195139.2:c.1678C>T | NP_001182068.2:p.Gln560Ter | |
| NM_001365426.1:c.1327C>T | NP_001352355.1:p.Gln443Ter | |
| NR_158212.1:n.1712C>T |