Linked Data
dbSNP Id:
rs746434939
ExAC:
16:70515301 G / A
gnomAD v2:
16-70515301-G-A
gnomAD v4:
16-70481398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481398G>A , CM000678.2:g.70481398G>A | GRCh38 |
| NC_000016.9:g.70515301G>A , CM000678.1:g.70515301G>A | GRCh37 |
| NC_000016.8:g.69072802G>A | NCBI36 |
| NG_027529.1:g.47157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2272C>T | ENSP00000461912.2:n.*2272C>T | |
| ENST00000703106.1:c.2241C>T | ENSP00000515173.1:n.2241C>T | |
| ENST00000703107.1:c.*2125C>T | ENSP00000515174.1:n.*2125C>T | |
| ENST00000703108.1:c.*644C>T | ENSP00000515175.1:n.*644C>T | |
| ENST00000703109.1:c.2229C>T | ENSP00000515176.1:p.Ala743= | |
| ENST00000703110.1:c.*1698C>T | ENSP00000515177.1:n.*1698C>T | |
| ENST00000703111.1:n.2479C>T | ||
| ENST00000703112.1:n.3140C>T | ||
| ENST00000703113.1:c.*1609C>T | ENSP00000515178.1:n.*1609C>T | |
| ENST00000703114.1:c.*845C>T | ENSP00000515179.1:n.*845C>T | |
| ENST00000703115.1:c.1309C>T | ENSP00000515180.1:n.1309C>T | |
| ENST00000323786.10:c.2196C>T MANE Select | ENSP00000315775.5:p.Ala732= | |
| ENST00000564415.6:c.*1976C>T | ENSP00000456653.2:n.*1976C>T | |
| ENST00000674443.1:c.2121C>T | ENSP00000501405.1:p.Ala707= | |
| ENST00000323786.9:c.2196C>T | ENSP00000315775.5:p.Ala732= | |
| ENST00000393612.8:c.2133C>T | ENSP00000377236.5:p.Ala711= | |
| ENST00000482252.5:c.2343C>T | ENSP00000432802.1:n.2343C>T | |
| ENST00000526700.5:n.1372C>T | ||
| ENST00000530314.5:n.2875C>T | ||
| ENST00000564415.5:c.*1976C>T | ENSP00000456653.1:n.*1976C>T | |
| ENST00000565715.1:c.258C>T | ENSP00000455693.1:p.Ala86= | |
| NM_001195139.1:c.2133C>T | NP_001182068.1:p.Ala711= | |
| NM_015386.2:c.2196C>T | NP_056201.2:p.Ala732= | |
| XM_011522981.1:c.1770C>T | XP_011521283.1:p.Ala590= | |
| XM_011522981.3:c.1770C>T | XP_011521283.1:p.Ala590= | |
| XM_024450224.1:c.1215C>T | XP_024305992.1:p.Ala405= | |
| XR_933266.2:n.2142C>T | ||
| NM_015386.3:c.2196C>T MANE Select | NP_056201.2:p.Ala732= | |
| NM_001195139.2:c.2121C>T | NP_001182068.2:p.Ala707= | |
| NM_001365426.1:c.1770C>T | NP_001352355.1:p.Ala590= | |
| NR_158212.1:n.2155C>T |