Linked Data
dbSNP Id:
rs2049070821
MyVariant Identifiers:
chr16:g.70517846C>T (hg19)
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483943C>T , CM000678.2:g.70483943C>T | GRCh38 |
| NC_000016.9:g.70517846C>T , CM000678.1:g.70517846C>T | GRCh37 |
| NC_000016.8:g.69075347C>T | NCBI36 |
| NG_027529.1:g.44612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1813G>A | ENSP00000461912.2:n.*1813G>A | |
| ENST00000703106.1:c.1782G>A | ENSP00000515173.1:n.1782G>A | |
| ENST00000703107.1:c.*1666G>A | ENSP00000515174.1:n.*1666G>A | |
| ENST00000703108.1:c.*185G>A | ENSP00000515175.1:n.*185G>A | |
| ENST00000703109.1:c.1770G>A | ENSP00000515176.1:p.Gln590= | |
| ENST00000703110.1:c.*1239G>A | ENSP00000515177.1:n.*1239G>A | |
| ENST00000703111.1:n.1744G>A | ||
| ENST00000703112.1:n.2510G>A | ||
| ENST00000703113.1:c.*1150G>A | ENSP00000515178.1:n.*1150G>A | |
| ENST00000703114.1:c.*386G>A | ENSP00000515179.1:n.*386G>A | |
| ENST00000703115.1:c.850G>A | ENSP00000515180.1:n.850G>A | |
| ENST00000323786.10:c.1737G>A MANE Select | ENSP00000315775.5:p.Gln579= | |
| ENST00000564415.6:c.*1517G>A | ENSP00000456653.2:n.*1517G>A | |
| ENST00000674443.1:c.1662G>A | ENSP00000501405.1:p.Gln554= | |
| ENST00000323786.9:c.1737G>A | ENSP00000315775.5:p.Gln579= | |
| ENST00000393612.8:c.1674G>A | ENSP00000377236.5:p.Gln558= | |
| ENST00000482252.5:c.1884G>A | ENSP00000432802.1:n.1884G>A | |
| ENST00000526700.5:n.913G>A | ||
| ENST00000530314.5:n.2416G>A | ||
| ENST00000564315.1:n.197G>A | ||
| ENST00000564415.5:c.*1517G>A | ENSP00000456653.1:n.*1517G>A | |
| NM_001195139.1:c.1674G>A | NP_001182068.1:p.Gln558= | |
| NM_015386.2:c.1737G>A | NP_056201.2:p.Gln579= | |
| XM_011522981.1:c.1311G>A | XP_011521283.1:p.Gln437= | |
| XR_933266.1:n.1683G>A | ||
| XR_933267.1:n.1683G>A | ||
| XM_011522981.3:c.1311G>A | XP_011521283.1:p.Gln437= | |
| XM_024450224.1:c.756G>A | XP_024305992.1:p.Gln252= | |
| XR_001751889.1:n.1620G>A | ||
| XR_933266.2:n.1683G>A | ||
| NM_015386.3:c.1737G>A MANE Select | NP_056201.2:p.Gln579= | |
| NM_001195139.2:c.1662G>A | NP_001182068.2:p.Gln554= | |
| NM_001365426.1:c.1311G>A | NP_001352355.1:p.Gln437= | |
| NR_158212.1:n.1696G>A |