Linked Data
ClinVar Variation Id:
3039859
ClinVar RCV Id:
RCV003923837
dbSNP Id:
rs540302874
ExAC:
16:70517861 G / C
gnomAD v2:
16-70517861-G-C
gnomAD v3:
16-70483958-G-C
gnomAD v4:
16-70483958-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483958G>C , CM000678.2:g.70483958G>C | GRCh38 |
| NC_000016.9:g.70517861G>C , CM000678.1:g.70517861G>C | GRCh37 |
| NC_000016.8:g.69075362G>C | NCBI36 |
| NG_027529.1:g.44597C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1798C>G | ENSP00000461912.2:n.*1798C>G | |
| ENST00000703106.1:c.1767C>G | ENSP00000515173.1:n.1767C>G | |
| ENST00000703107.1:c.*1651C>G | ENSP00000515174.1:n.*1651C>G | |
| ENST00000703108.1:c.*170C>G | ENSP00000515175.1:n.*170C>G | |
| ENST00000703109.1:c.1755C>G | ENSP00000515176.1:p.Thr585= | |
| ENST00000703110.1:c.*1224C>G | ENSP00000515177.1:n.*1224C>G | |
| ENST00000703111.1:n.1729C>G | ||
| ENST00000703112.1:n.2495C>G | ||
| ENST00000703113.1:c.*1135C>G | ENSP00000515178.1:n.*1135C>G | |
| ENST00000703114.1:c.*371C>G | ENSP00000515179.1:n.*371C>G | |
| ENST00000703115.1:c.835C>G | ENSP00000515180.1:n.835C>G | |
| ENST00000323786.10:c.1722C>G MANE Select | ENSP00000315775.5:p.Thr574= | |
| ENST00000564415.6:c.*1502C>G | ENSP00000456653.2:n.*1502C>G | |
| ENST00000674443.1:c.1647C>G | ENSP00000501405.1:p.Thr549= | |
| ENST00000323786.9:c.1722C>G | ENSP00000315775.5:p.Thr574= | |
| ENST00000393612.8:c.1659C>G | ENSP00000377236.5:p.Thr553= | |
| ENST00000482252.5:c.1869C>G | ENSP00000432802.1:n.1869C>G | |
| ENST00000526700.5:n.898C>G | ||
| ENST00000530314.5:n.2401C>G | ||
| ENST00000564315.1:n.182C>G | ||
| ENST00000564415.5:c.*1502C>G | ENSP00000456653.1:n.*1502C>G | |
| NM_001195139.1:c.1659C>G | NP_001182068.1:p.Thr553= | |
| NM_015386.2:c.1722C>G | NP_056201.2:p.Thr574= | |
| XM_011522981.1:c.1296C>G | XP_011521283.1:p.Thr432= | |
| XR_933266.1:n.1668C>G | ||
| XR_933267.1:n.1668C>G | ||
| XM_011522981.3:c.1296C>G | XP_011521283.1:p.Thr432= | |
| XM_024450224.1:c.741C>G | XP_024305992.1:p.Thr247= | |
| XR_001751889.1:n.1605C>G | ||
| XR_933266.2:n.1668C>G | ||
| NM_015386.3:c.1722C>G MANE Select | NP_056201.2:p.Thr574= | |
| NM_001195139.2:c.1647C>G | NP_001182068.2:p.Thr549= | |
| NM_001365426.1:c.1296C>G | NP_001352355.1:p.Thr432= | |
| NR_158212.1:n.1681C>G |