Linked Data
dbSNP Id:
rs2049071832
gnomAD v4:
16-70483961-G-A
MyVariant Identifiers:
chr16:g.70517864G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70483961G>A , CM000678.2:g.70483961G>A | GRCh38 |
| NC_000016.9:g.70517864G>A , CM000678.1:g.70517864G>A | GRCh37 |
| NC_000016.8:g.69075365G>A | NCBI36 |
| NG_027529.1:g.44594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1795C>T | ENSP00000461912.2:n.*1795C>T | |
| ENST00000703106.1:c.1764C>T | ENSP00000515173.1:n.1764C>T | |
| ENST00000703107.1:c.*1648C>T | ENSP00000515174.1:n.*1648C>T | |
| ENST00000703108.1:c.*167C>T | ENSP00000515175.1:n.*167C>T | |
| ENST00000703109.1:c.1752C>T | ENSP00000515176.1:p.Cys584= | |
| ENST00000703110.1:c.*1221C>T | ENSP00000515177.1:n.*1221C>T | |
| ENST00000703111.1:n.1726C>T | ||
| ENST00000703112.1:n.2492C>T | ||
| ENST00000703113.1:c.*1132C>T | ENSP00000515178.1:n.*1132C>T | |
| ENST00000703114.1:c.*368C>T | ENSP00000515179.1:n.*368C>T | |
| ENST00000703115.1:c.832C>T | ENSP00000515180.1:n.832C>T | |
| ENST00000323786.10:c.1719C>T MANE Select | ENSP00000315775.5:p.Cys573= | |
| ENST00000564415.6:c.*1499C>T | ENSP00000456653.2:n.*1499C>T | |
| ENST00000674443.1:c.1644C>T | ENSP00000501405.1:p.Cys548= | |
| ENST00000323786.9:c.1719C>T | ENSP00000315775.5:p.Cys573= | |
| ENST00000393612.8:c.1656C>T | ENSP00000377236.5:p.Cys552= | |
| ENST00000482252.5:c.1866C>T | ENSP00000432802.1:n.1866C>T | |
| ENST00000526700.5:n.895C>T | ||
| ENST00000530314.5:n.2398C>T | ||
| ENST00000564315.1:n.179C>T | ||
| ENST00000564415.5:c.*1499C>T | ENSP00000456653.1:n.*1499C>T | |
| NM_001195139.1:c.1656C>T | NP_001182068.1:p.Cys552= | |
| NM_015386.2:c.1719C>T | NP_056201.2:p.Cys573= | |
| XM_011522981.1:c.1293C>T | XP_011521283.1:p.Cys431= | |
| XR_933266.1:n.1665C>T | ||
| XR_933267.1:n.1665C>T | ||
| XM_011522981.3:c.1293C>T | XP_011521283.1:p.Cys431= | |
| XM_024450224.1:c.738C>T | XP_024305992.1:p.Cys246= | |
| XR_001751889.1:n.1602C>T | ||
| XR_933266.2:n.1665C>T | ||
| NM_015386.3:c.1719C>T MANE Select | NP_056201.2:p.Cys573= | |
| NM_001195139.2:c.1644C>T | NP_001182068.2:p.Cys548= | |
| NM_001365426.1:c.1293C>T | NP_001352355.1:p.Cys431= | |
| NR_158212.1:n.1678C>T |