Linked Data
dbSNP Id:
rs11593576
gnomAD v2:
10-81015896-C-T
gnomAD v3:
10-79256139-C-T
gnomAD v4:
10-79256139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79256139C>T , CM000672.2:g.79256139C>T | GRCh38 |
| NC_000010.10:g.81015896C>T , CM000672.1:g.81015896C>T | GRCh37 |
| NC_000010.9:g.80685902C>T | NCBI36 |
| NG_028289.1:g.192105C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334512.10:c.281-21042C>T MANE Select | ENSP00000334474.5:n.281-21042C>T | |
| ENST00000334512.9:c.281-21042C>T | ENSP00000334474.5:n.281-21042C>T | |
| ENST00000472035.5:n.70+12401C>T | ||
| ENST00000611351.1:c.281-21042C>T | ENSP00000481736.1:n.281-21042C>T | |
| NM_020338.3:c.281-21042C>T | NP_065071.1:n.281-21042C>T | |
| XM_005269987.3:c.281-21042C>T | XP_005270044.1:n.281-21042C>T | |
| XM_005269988.2:c.281-21042C>T | XP_005270045.1:n.281-21042C>T | |
| XM_006717923.2:c.281-21042C>T | XP_006717986.1:n.281-21042C>T | |
| XM_006717924.2:c.281-21042C>T | XP_006717987.1:n.281-21042C>T | |
| XM_006717925.2:c.281-21042C>T | XP_006717988.1:n.281-21042C>T | |
| XM_011539978.1:c.-93+12401C>T | XP_011538280.1:n.-93+12401C>T | |
| XM_011539979.1:c.-93+13170C>T | XP_011538281.1:n.-93+13170C>T | |
| XM_011539980.1:c.-93+12401C>T | XP_011538282.1:n.-93+12401C>T | |
| XM_005269987.5:c.281-21042C>T | XP_005270044.1:n.281-21042C>T | |
| XM_005269988.3:c.281-21042C>T | XP_005270045.1:n.281-21042C>T | |
| XM_006717923.3:c.281-21042C>T | XP_006717986.1:n.281-21042C>T | |
| XM_006717924.3:c.281-21042C>T | XP_006717987.1:n.281-21042C>T | |
| XM_006717925.3:c.281-21042C>T | XP_006717988.1:n.281-21042C>T | |
| XM_011539978.2:c.-93+12401C>T | XP_011538280.1:n.-93+12401C>T | |
| XM_011539980.3:c.-93+12401C>T | XP_011538282.1:n.-93+12401C>T | |
| XM_017016441.1:c.-93+13069C>T | XP_016871930.1:n.-93+13069C>T | |
| XM_017016442.1:c.-93+13170C>T | XP_016871931.1:n.-93+13170C>T | |
| XM_017016443.1:c.-93+13245C>T | XP_016871932.1:n.-93+13245C>T | |
| NM_020338.4:c.281-21042C>T MANE Select | NP_065071.1:n.281-21042C>T |