Linked Data
ClinVar Variation Id:
392502
ClinVar RCV Id:
RCV000424348
dbSNP Id:
rs765871294
ExAC:
16:70514935 T / C
gnomAD v2:
16-70514935-T-C
gnomAD v3:
16-70481032-T-C
gnomAD v4:
16-70481032-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481032T>C , CM000678.2:g.70481032T>C | GRCh38 |
| NC_000016.9:g.70514935T>C , CM000678.1:g.70514935T>C | GRCh37 |
| NC_000016.8:g.69072436T>C | NCBI36 |
| NG_027529.1:g.47523A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2424A>G | ENSP00000461912.2:n.*2424A>G | |
| ENST00000703106.1:c.2393A>G | ENSP00000515173.1:n.2393A>G | |
| ENST00000703107.1:c.*2277A>G | ENSP00000515174.1:n.*2277A>G | |
| ENST00000703108.1:c.*796A>G | ENSP00000515175.1:n.*796A>G | |
| ENST00000703109.1:c.2381A>G | ENSP00000515176.1:p.Asp794Gly | |
| ENST00000703110.1:c.*1850A>G | ENSP00000515177.1:n.*1850A>G | |
| ENST00000703111.1:n.2631A>G | ||
| ENST00000703112.1:n.3292A>G | ||
| ENST00000703113.1:c.*1761A>G | ENSP00000515178.1:n.*1761A>G | |
| ENST00000703114.1:c.*997A>G | ENSP00000515179.1:n.*997A>G | |
| ENST00000703115.1:c.1461A>G | ENSP00000515180.1:n.1461A>G | |
| ENST00000323786.10:c.2348A>G MANE Select | ENSP00000315775.5:p.Asp783Gly | |
| ENST00000564415.6:c.*2128A>G | ENSP00000456653.2:n.*2128A>G | |
| ENST00000674443.1:c.2273A>G | ENSP00000501405.1:p.Asp758Gly | |
| ENST00000323786.9:c.2348A>G | ENSP00000315775.5:p.Asp783Gly | |
| ENST00000393612.8:c.2285A>G | ENSP00000377236.5:p.Asp762Gly | |
| ENST00000482252.5:c.2495A>G | ENSP00000432802.1:n.2495A>G | |
| ENST00000526700.5:n.1524A>G | ||
| ENST00000530314.5:n.3027A>G | ||
| ENST00000564415.5:c.*2128A>G | ENSP00000456653.1:n.*2128A>G | |
| ENST00000565715.1:c.410A>G | ENSP00000455693.1:p.Asp137Gly | |
| NM_001195139.1:c.2285A>G | NP_001182068.1:p.Asp762Gly | |
| NM_015386.2:c.2348A>G | NP_056201.2:p.Asp783Gly | |
| XM_011522981.1:c.1922A>G | XP_011521283.1:p.Asp641Gly | |
| XM_011522981.3:c.1922A>G | XP_011521283.1:p.Asp641Gly | |
| XM_024450224.1:c.1367A>G | XP_024305992.1:p.Asp456Gly | |
| XR_933266.2:n.2294A>G | ||
| NM_015386.3:c.2348A>G MANE Select | NP_056201.2:p.Asp783Gly | |
| NM_001195139.2:c.2273A>G | NP_001182068.2:p.Asp758Gly | |
| NM_001365426.1:c.1922A>G | NP_001352355.1:p.Asp641Gly | |
| NR_158212.1:n.2307A>G |