Linked Data
dbSNP Id:
rs1387748248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161521121C>T , CM000663.2:g.161521121C>T | GRCh38 |
| NC_000001.10:g.161490911C>T , CM000663.1:g.161490911C>T | GRCh37 |
| NC_000001.9:g.159757535C>T | NCBI36 |
| NG_012066.1:g.20707C>T | |
| NG_012066.2:g.20707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467525.5:c.918+1408C>T | ENSP00000476495.1:n.918+1408C>T | |
| ENST00000491841.1:n.425+1130C>T | ||
| XM_011509287.1:c.*23+1130C>T | XP_011507589.1:n.*23+1130C>T | |
| XM_011509288.1:c.*23+1130C>T | XP_011507590.1:n.*23+1130C>T | |
| XM_011509289.1:c.*23+1130C>T | XP_011507591.1:n.*23+1130C>T | |
| XM_011509287.2:c.*23+1130C>T | XP_011507589.1:n.*23+1130C>T | |
| XM_017000664.1:c.944-2169C>T | XP_016856153.1:n.944-2169C>T | |
| XM_017000665.1:c.944-2169C>T | XP_016856154.1:n.944-2169C>T | |
| XR_001737042.1:n.1171+1130C>T |