Linked Data
dbSNP Id:
rs755718438
ExAC:
16:70517841 A / C
gnomAD v2:
16-70517841-A-C
gnomAD v4:
16-70483938-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483938A>C , CM000678.2:g.70483938A>C | GRCh38 |
| NC_000016.9:g.70517841A>C , CM000678.1:g.70517841A>C | GRCh37 |
| NC_000016.8:g.69075342A>C | NCBI36 |
| NG_027529.1:g.44617T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1818T>G | ENSP00000461912.2:n.*1818T>G | |
| ENST00000703106.1:c.1787T>G | ENSP00000515173.1:n.1787T>G | |
| ENST00000703107.1:c.*1671T>G | ENSP00000515174.1:n.*1671T>G | |
| ENST00000703108.1:c.*190T>G | ENSP00000515175.1:n.*190T>G | |
| ENST00000703109.1:c.1775T>G | ENSP00000515176.1:p.Ile592Ser | |
| ENST00000703110.1:c.*1244T>G | ENSP00000515177.1:n.*1244T>G | |
| ENST00000703111.1:n.1749T>G | ||
| ENST00000703112.1:n.2515T>G | ||
| ENST00000703113.1:c.*1155T>G | ENSP00000515178.1:n.*1155T>G | |
| ENST00000703114.1:c.*391T>G | ENSP00000515179.1:n.*391T>G | |
| ENST00000703115.1:c.855T>G | ENSP00000515180.1:n.855T>G | |
| ENST00000323786.10:c.1742T>G MANE Select | ENSP00000315775.5:p.Ile581Ser | |
| ENST00000564415.6:c.*1522T>G | ENSP00000456653.2:n.*1522T>G | |
| ENST00000674443.1:c.1667T>G | ENSP00000501405.1:p.Ile556Ser | |
| ENST00000323786.9:c.1742T>G | ENSP00000315775.5:p.Ile581Ser | |
| ENST00000393612.8:c.1679T>G | ENSP00000377236.5:p.Ile560Ser | |
| ENST00000482252.5:c.1889T>G | ENSP00000432802.1:n.1889T>G | |
| ENST00000526700.5:n.918T>G | ||
| ENST00000530314.5:n.2421T>G | ||
| ENST00000564315.1:n.202T>G | ||
| ENST00000564415.5:c.*1522T>G | ENSP00000456653.1:n.*1522T>G | |
| NM_001195139.1:c.1679T>G | NP_001182068.1:p.Ile560Ser | |
| NM_015386.2:c.1742T>G | NP_056201.2:p.Ile581Ser | |
| XM_011522981.1:c.1316T>G | XP_011521283.1:p.Ile439Ser | |
| XR_933266.1:n.1688T>G | ||
| XR_933267.1:n.1688T>G | ||
| XM_011522981.3:c.1316T>G | XP_011521283.1:p.Ile439Ser | |
| XM_024450224.1:c.761T>G | XP_024305992.1:p.Ile254Ser | |
| XR_001751889.1:n.1625T>G | ||
| XR_933266.2:n.1688T>G | ||
| NM_015386.3:c.1742T>G MANE Select | NP_056201.2:p.Ile581Ser | |
| NM_001195139.2:c.1667T>G | NP_001182068.2:p.Ile556Ser | |
| NM_001365426.1:c.1316T>G | NP_001352355.1:p.Ile439Ser | |
| NR_158212.1:n.1701T>G |