Linked Data
dbSNP Id:
rs745322882
ExAC:
16:70517836 C / G
gnomAD v2:
16-70517836-C-G
gnomAD v4:
16-70483933-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483933C>G , CM000678.2:g.70483933C>G | GRCh38 |
| NC_000016.9:g.70517836C>G , CM000678.1:g.70517836C>G | GRCh37 |
| NC_000016.8:g.69075337C>G | NCBI36 |
| NG_027529.1:g.44622G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1823G>C | ENSP00000461912.2:n.*1823G>C | |
| ENST00000703106.1:c.1792G>C | ENSP00000515173.1:n.1792G>C | |
| ENST00000703107.1:c.*1676G>C | ENSP00000515174.1:n.*1676G>C | |
| ENST00000703108.1:c.*195G>C | ENSP00000515175.1:n.*195G>C | |
| ENST00000703109.1:c.1780G>C | ENSP00000515176.1:p.Gly594Arg | |
| ENST00000703110.1:c.*1249G>C | ENSP00000515177.1:n.*1249G>C | |
| ENST00000703111.1:n.1754G>C | ||
| ENST00000703112.1:n.2520G>C | ||
| ENST00000703113.1:c.*1160G>C | ENSP00000515178.1:n.*1160G>C | |
| ENST00000703114.1:c.*396G>C | ENSP00000515179.1:n.*396G>C | |
| ENST00000703115.1:c.860G>C | ENSP00000515180.1:n.860G>C | |
| ENST00000323786.10:c.1747G>C MANE Select | ENSP00000315775.5:p.Gly583Arg | |
| ENST00000564415.6:c.*1527G>C | ENSP00000456653.2:n.*1527G>C | |
| ENST00000674443.1:c.1672G>C | ENSP00000501405.1:p.Gly558Arg | |
| ENST00000323786.9:c.1747G>C | ENSP00000315775.5:p.Gly583Arg | |
| ENST00000393612.8:c.1684G>C | ENSP00000377236.5:p.Gly562Arg | |
| ENST00000482252.5:c.1894G>C | ENSP00000432802.1:n.1894G>C | |
| ENST00000526700.5:n.923G>C | ||
| ENST00000530314.5:n.2426G>C | ||
| ENST00000564315.1:n.207G>C | ||
| ENST00000564415.5:c.*1527G>C | ENSP00000456653.1:n.*1527G>C | |
| NM_001195139.1:c.1684G>C | NP_001182068.1:p.Gly562Arg | |
| NM_015386.2:c.1747G>C | NP_056201.2:p.Gly583Arg | |
| XM_011522981.1:c.1321G>C | XP_011521283.1:p.Gly441Arg | |
| XR_933266.1:n.1693G>C | ||
| XR_933267.1:n.1693G>C | ||
| XM_011522981.3:c.1321G>C | XP_011521283.1:p.Gly441Arg | |
| XM_024450224.1:c.766G>C | XP_024305992.1:p.Gly256Arg | |
| XR_001751889.1:n.1630G>C | ||
| XR_933266.2:n.1693G>C | ||
| NM_015386.3:c.1747G>C MANE Select | NP_056201.2:p.Gly583Arg | |
| NM_001195139.2:c.1672G>C | NP_001182068.2:p.Gly558Arg | |
| NM_001365426.1:c.1321G>C | NP_001352355.1:p.Gly441Arg | |
| NR_158212.1:n.1706G>C |