Linked Data
dbSNP Id:
rs557176935
ExAC:
16:70517723 A / G
gnomAD v2:
16-70517723-A-G
gnomAD v3:
16-70483820-A-G
gnomAD v4:
16-70483820-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483820A>G , CM000678.2:g.70483820A>G | GRCh38 |
| NC_000016.9:g.70517723A>G , CM000678.1:g.70517723A>G | GRCh37 |
| NC_000016.8:g.69075224A>G | NCBI36 |
| NG_027529.1:g.44735T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1903+33T>C | ENSP00000461912.2:n.*1903+33T>C | |
| ENST00000703106.1:c.1872+33T>C | ENSP00000515173.1:n.1872+33T>C | |
| ENST00000703107.1:c.*1756+33T>C | ENSP00000515174.1:n.*1756+33T>C | |
| ENST00000703108.1:c.*275+33T>C | ENSP00000515175.1:n.*275+33T>C | |
| ENST00000703109.1:c.1860+33T>C | ENSP00000515176.1:n.1860+33T>C | |
| ENST00000703110.1:c.*1329+33T>C | ENSP00000515177.1:n.*1329+33T>C | |
| ENST00000703111.1:n.1834+33T>C | ||
| ENST00000703112.1:n.2600+33T>C | ||
| ENST00000703113.1:c.*1240+33T>C | ENSP00000515178.1:n.*1240+33T>C | |
| ENST00000703114.1:c.*476+33T>C | ENSP00000515179.1:n.*476+33T>C | |
| ENST00000703115.1:c.940+33T>C | ENSP00000515180.1:n.940+33T>C | |
| ENST00000323786.10:c.1827+33T>C MANE Select | ENSP00000315775.5:n.1827+33T>C | |
| ENST00000564415.6:c.*1607+33T>C | ENSP00000456653.2:n.*1607+33T>C | |
| ENST00000674443.1:c.1752+33T>C | ENSP00000501405.1:n.1752+33T>C | |
| ENST00000323786.9:c.1827+33T>C | ENSP00000315775.5:n.1827+33T>C | |
| ENST00000393612.8:c.1764+33T>C | ENSP00000377236.5:n.1764+33T>C | |
| ENST00000482252.5:c.1974+33T>C | ENSP00000432802.1:n.1974+33T>C | |
| ENST00000526700.5:n.1003+33T>C | ||
| ENST00000530314.5:n.2506+33T>C | ||
| ENST00000564315.1:n.287+33T>C | ||
| ENST00000564415.5:c.*1607+33T>C | ENSP00000456653.1:n.*1607+33T>C | |
| NM_001195139.1:c.1764+33T>C | NP_001182068.1:n.1764+33T>C | |
| NM_015386.2:c.1827+33T>C | NP_056201.2:n.1827+33T>C | |
| XM_011522981.1:c.1401+33T>C | XP_011521283.1:n.1401+33T>C | |
| XR_933266.1:n.1773+33T>C | ||
| XR_933267.1:n.1773+33T>C | ||
| XM_011522981.3:c.1401+33T>C | XP_011521283.1:n.1401+33T>C | |
| XM_024450224.1:c.846+33T>C | XP_024305992.1:n.846+33T>C | |
| XR_001751889.1:n.1710+33T>C | ||
| XR_933266.2:n.1773+33T>C | ||
| NM_015386.3:c.1827+33T>C MANE Select | NP_056201.2:n.1827+33T>C | |
| NM_001195139.2:c.1752+33T>C | NP_001182068.2:n.1752+33T>C | |
| NM_001365426.1:c.1401+33T>C | NP_001352355.1:n.1401+33T>C | |
| NR_158212.1:n.1786+33T>C |