Linked Data
ClinVar Variation Id:
320365
dbSNP Id:
rs150547677
ExAC:
16:70515334 C / T
gnomAD v2:
16-70515334-C-T
gnomAD v3:
16-70481431-C-T
gnomAD v4:
16-70481431-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481431C>T , CM000678.2:g.70481431C>T | GRCh38 |
| NC_000016.9:g.70515334C>T , CM000678.1:g.70515334C>T | GRCh37 |
| NC_000016.8:g.69072835C>T | NCBI36 |
| NG_027529.1:g.47124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2239G>A | ENSP00000461912.2:n.*2239G>A | |
| ENST00000703106.1:c.2208G>A | ENSP00000515173.1:n.2208G>A | |
| ENST00000703107.1:c.*2092G>A | ENSP00000515174.1:n.*2092G>A | |
| ENST00000703108.1:c.*611G>A | ENSP00000515175.1:n.*611G>A | |
| ENST00000703109.1:c.2196G>A | ENSP00000515176.1:p.Thr732= | |
| ENST00000703110.1:c.*1665G>A | ENSP00000515177.1:n.*1665G>A | |
| ENST00000703111.1:n.2446G>A | ||
| ENST00000703112.1:n.3107G>A | ||
| ENST00000703113.1:c.*1576G>A | ENSP00000515178.1:n.*1576G>A | |
| ENST00000703114.1:c.*812G>A | ENSP00000515179.1:n.*812G>A | |
| ENST00000703115.1:c.1276G>A | ENSP00000515180.1:n.1276G>A | |
| ENST00000323786.10:c.2163G>A MANE Select | ENSP00000315775.5:p.Thr721= | |
| ENST00000564415.6:c.*1943G>A | ENSP00000456653.2:n.*1943G>A | |
| ENST00000674443.1:c.2088G>A | ENSP00000501405.1:p.Thr696= | |
| ENST00000323786.9:c.2163G>A | ENSP00000315775.5:p.Thr721= | |
| ENST00000393612.8:c.2100G>A | ENSP00000377236.5:p.Thr700= | |
| ENST00000482252.5:c.2310G>A | ENSP00000432802.1:n.2310G>A | |
| ENST00000526700.5:n.1339G>A | ||
| ENST00000530314.5:n.2842G>A | ||
| ENST00000564415.5:c.*1943G>A | ENSP00000456653.1:n.*1943G>A | |
| ENST00000565715.1:c.225G>A | ENSP00000455693.1:p.Thr75= | |
| NM_001195139.1:c.2100G>A | NP_001182068.1:p.Thr700= | |
| NM_015386.2:c.2163G>A | NP_056201.2:p.Thr721= | |
| XM_011522981.1:c.1737G>A | XP_011521283.1:p.Thr579= | |
| XM_011522981.3:c.1737G>A | XP_011521283.1:p.Thr579= | |
| XM_024450224.1:c.1182G>A | XP_024305992.1:p.Thr394= | |
| XR_933266.2:n.2109G>A | ||
| NM_015386.3:c.2163G>A MANE Select | NP_056201.2:p.Thr721= | |
| NM_001195139.2:c.2088G>A | NP_001182068.2:p.Thr696= | |
| NM_001365426.1:c.1737G>A | NP_001352355.1:p.Thr579= | |
| NR_158212.1:n.2122G>A |