Linked Data
dbSNP Id:
rs1185772716
gnomAD v2:
16-70517914-G-A
gnomAD v3:
16-70484011-G-A
gnomAD v4:
16-70484011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70484011G>A , CM000678.2:g.70484011G>A | GRCh38 |
| NC_000016.9:g.70517914G>A , CM000678.1:g.70517914G>A | GRCh37 |
| NC_000016.8:g.69075415G>A | NCBI36 |
| NG_027529.1:g.44544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*1787-42C>T | ENSP00000461912.2:n.*1787-42C>T | |
| ENST00000703106.1:c.1714C>T | ENSP00000515173.1:p.Pro572Ser | |
| ENST00000703107.1:c.*1640-42C>T | ENSP00000515174.1:n.*1640-42C>T | |
| ENST00000703108.1:c.*159-42C>T | ENSP00000515175.1:n.*159-42C>T | |
| ENST00000703109.1:c.1744-42C>T | ENSP00000515176.1:n.1744-42C>T | |
| ENST00000703110.1:c.*1213-42C>T | ENSP00000515177.1:n.*1213-42C>T | |
| ENST00000703111.1:n.1718-42C>T | ||
| ENST00000703112.1:n.2484-42C>T | ||
| ENST00000703113.1:c.*1124-42C>T | ENSP00000515178.1:n.*1124-42C>T | |
| ENST00000703114.1:c.*360-42C>T | ENSP00000515179.1:n.*360-42C>T | |
| ENST00000703115.1:c.824-42C>T | ENSP00000515180.1:n.824-42C>T | |
| ENST00000323786.10:c.1711-42C>T MANE Select | ENSP00000315775.5:n.1711-42C>T | |
| ENST00000564415.6:c.*1491-42C>T | ENSP00000456653.2:n.*1491-42C>T | |
| ENST00000674443.1:c.1636-42C>T | ENSP00000501405.1:n.1636-42C>T | |
| ENST00000323786.9:c.1711-42C>T | ENSP00000315775.5:n.1711-42C>T | |
| ENST00000393612.8:c.1648-42C>T | ENSP00000377236.5:n.1648-42C>T | |
| ENST00000482252.5:c.1858-42C>T | ENSP00000432802.1:n.1858-42C>T | |
| ENST00000526700.5:n.887-42C>T | ||
| ENST00000530314.5:n.2390-42C>T | ||
| ENST00000564315.1:n.171-42C>T | ||
| ENST00000564415.5:c.*1491-42C>T | ENSP00000456653.1:n.*1491-42C>T | |
| NM_001195139.1:c.1648-42C>T | NP_001182068.1:n.1648-42C>T | |
| NM_015386.2:c.1711-42C>T | NP_056201.2:n.1711-42C>T | |
| XM_011522981.1:c.1285-42C>T | XP_011521283.1:n.1285-42C>T | |
| XR_933266.1:n.1657-42C>T | ||
| XR_933267.1:n.1657-42C>T | ||
| XM_011522981.3:c.1285-42C>T | XP_011521283.1:n.1285-42C>T | |
| XM_024450224.1:c.730-42C>T | XP_024305992.1:n.730-42C>T | |
| XR_001751889.1:n.1594-42C>T | ||
| XR_933266.2:n.1657-42C>T | ||
| NM_015386.3:c.1711-42C>T MANE Select | NP_056201.2:n.1711-42C>T | |
| NM_001195139.2:c.1636-42C>T | NP_001182068.2:n.1636-42C>T | |
| NM_001365426.1:c.1285-42C>T | NP_001352355.1:n.1285-42C>T | |
| NR_158212.1:n.1670-42C>T |