Linked Data
ClinVar Variation Id:
423833
dbSNP Id:
rs759705702
ExAC:
16:70517788 C / T
gnomAD v2:
16-70517788-C-T
gnomAD v3:
16-70483885-C-T
gnomAD v4:
16-70483885-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483885C>T , CM000678.2:g.70483885C>T | GRCh38 |
| NC_000016.9:g.70517788C>T , CM000678.1:g.70517788C>T | GRCh37 |
| NC_000016.8:g.69075289C>T | NCBI36 |
| NG_027529.1:g.44670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1871G>A | ENSP00000461912.2:n.*1871G>A | |
| ENST00000703106.1:c.1840G>A | ENSP00000515173.1:n.1840G>A | |
| ENST00000703107.1:c.*1724G>A | ENSP00000515174.1:n.*1724G>A | |
| ENST00000703108.1:c.*243G>A | ENSP00000515175.1:n.*243G>A | |
| ENST00000703109.1:c.1828G>A | ENSP00000515176.1:p.Ala610Thr | |
| ENST00000703110.1:c.*1297G>A | ENSP00000515177.1:n.*1297G>A | |
| ENST00000703111.1:n.1802G>A | ||
| ENST00000703112.1:n.2568G>A | ||
| ENST00000703113.1:c.*1208G>A | ENSP00000515178.1:n.*1208G>A | |
| ENST00000703114.1:c.*444G>A | ENSP00000515179.1:n.*444G>A | |
| ENST00000703115.1:c.908G>A | ENSP00000515180.1:n.908G>A | |
| ENST00000323786.10:c.1795G>A MANE Select | ENSP00000315775.5:p.Ala599Thr | |
| ENST00000564415.6:c.*1575G>A | ENSP00000456653.2:n.*1575G>A | |
| ENST00000674443.1:c.1720G>A | ENSP00000501405.1:p.Ala574Thr | |
| ENST00000323786.9:c.1795G>A | ENSP00000315775.5:p.Ala599Thr | |
| ENST00000393612.8:c.1732G>A | ENSP00000377236.5:p.Ala578Thr | |
| ENST00000482252.5:c.1942G>A | ENSP00000432802.1:n.1942G>A | |
| ENST00000526700.5:n.971G>A | ||
| ENST00000530314.5:n.2474G>A | ||
| ENST00000564315.1:n.255G>A | ||
| ENST00000564415.5:c.*1575G>A | ENSP00000456653.1:n.*1575G>A | |
| NM_001195139.1:c.1732G>A | NP_001182068.1:p.Ala578Thr | |
| NM_015386.2:c.1795G>A | NP_056201.2:p.Ala599Thr | |
| XM_011522981.1:c.1369G>A | XP_011521283.1:p.Ala457Thr | |
| XR_933266.1:n.1741G>A | ||
| XR_933267.1:n.1741G>A | ||
| XM_011522981.3:c.1369G>A | XP_011521283.1:p.Ala457Thr | |
| XM_024450224.1:c.814G>A | XP_024305992.1:p.Ala272Thr | |
| XR_001751889.1:n.1678G>A | ||
| XR_933266.2:n.1741G>A | ||
| NM_015386.3:c.1795G>A MANE Select | NP_056201.2:p.Ala599Thr | |
| NM_001195139.2:c.1720G>A | NP_001182068.2:p.Ala574Thr | |
| NM_001365426.1:c.1369G>A | NP_001352355.1:p.Ala457Thr | |
| NR_158212.1:n.1754G>A |