Linked Data
dbSNP Id:
rs201826142
ExAC:
16:70517758 G / A
gnomAD v2:
16-70517758-G-A
gnomAD v3:
16-70483855-G-A
gnomAD v4:
16-70483855-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483855G>A , CM000678.2:g.70483855G>A | GRCh38 |
| NC_000016.9:g.70517758G>A , CM000678.1:g.70517758G>A | GRCh37 |
| NC_000016.8:g.69075259G>A | NCBI36 |
| NG_027529.1:g.44700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1901C>T | ENSP00000461912.2:n.*1901C>T | |
| ENST00000703106.1:c.1870C>T | ENSP00000515173.1:n.1870C>T | |
| ENST00000703107.1:c.*1754C>T | ENSP00000515174.1:n.*1754C>T | |
| ENST00000703108.1:c.*273C>T | ENSP00000515175.1:n.*273C>T | |
| ENST00000703109.1:c.1858C>T | ENSP00000515176.1:p.Gln620Ter | |
| ENST00000703110.1:c.*1327C>T | ENSP00000515177.1:n.*1327C>T | |
| ENST00000703111.1:n.1832C>T | ||
| ENST00000703112.1:n.2598C>T | ||
| ENST00000703113.1:c.*1238C>T | ENSP00000515178.1:n.*1238C>T | |
| ENST00000703114.1:c.*474C>T | ENSP00000515179.1:n.*474C>T | |
| ENST00000703115.1:c.938C>T | ENSP00000515180.1:n.938C>T | |
| ENST00000323786.10:c.1825C>T MANE Select | ENSP00000315775.5:p.Gln609Ter | |
| ENST00000564415.6:c.*1605C>T | ENSP00000456653.2:n.*1605C>T | |
| ENST00000674443.1:c.1750C>T | ENSP00000501405.1:p.Gln584Ter | |
| ENST00000323786.9:c.1825C>T | ENSP00000315775.5:p.Gln609Ter | |
| ENST00000393612.8:c.1762C>T | ENSP00000377236.5:p.Gln588Ter | |
| ENST00000482252.5:c.1972C>T | ENSP00000432802.1:n.1972C>T | |
| ENST00000526700.5:n.1001C>T | ||
| ENST00000530314.5:n.2504C>T | ||
| ENST00000564315.1:n.285C>T | ||
| ENST00000564415.5:c.*1605C>T | ENSP00000456653.1:n.*1605C>T | |
| NM_001195139.1:c.1762C>T | NP_001182068.1:p.Gln588Ter | |
| NM_015386.2:c.1825C>T | NP_056201.2:p.Gln609Ter | |
| XM_011522981.1:c.1399C>T | XP_011521283.1:p.Gln467Ter | |
| XR_933266.1:n.1771C>T | ||
| XR_933267.1:n.1771C>T | ||
| XM_011522981.3:c.1399C>T | XP_011521283.1:p.Gln467Ter | |
| XM_024450224.1:c.844C>T | XP_024305992.1:p.Gln282Ter | |
| XR_001751889.1:n.1708C>T | ||
| XR_933266.2:n.1771C>T | ||
| NM_015386.3:c.1825C>T MANE Select | NP_056201.2:p.Gln609Ter | |
| NM_001195139.2:c.1750C>T | NP_001182068.2:p.Gln584Ter | |
| NM_001365426.1:c.1399C>T | NP_001352355.1:p.Gln467Ter | |
| NR_158212.1:n.1784C>T |