Linked Data
dbSNP Id:
rs1530440
gnomAD v2:
10-63524591-C-T
gnomAD v3:
10-61764833-C-T
gnomAD v4:
10-61764833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61764833C>T , CM000672.2:g.61764833C>T | GRCh38 |
| NC_000010.10:g.63524591C>T , CM000672.1:g.63524591C>T | GRCh37 |
| NC_000010.9:g.63194597C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648843.3:c.817-1106C>T MANE Select | ENSP00000496918.2:n.817-1106C>T | |
| ENST00000330194.2:c.553-1106C>T | ENSP00000328698.2:n.553-1106C>T | |
| NM_173554.2:c.553-1106C>T | NP_775825.1:n.553-1106C>T | |
| XM_005269598.2:c.679-1106C>T | XP_005269655.1:n.679-1106C>T | |
| XM_005269599.3:c.679-1106C>T | XP_005269656.1:n.679-1106C>T | |
| XM_005269600.3:c.553-1106C>T | XP_005269657.1:n.553-1106C>T | |
| XM_006717690.2:c.817-1106C>T | XP_006717753.1:n.817-1106C>T | |
| NM_001366905.1:c.553-1106C>T | NP_001353834.1:n.553-1106C>T | |
| NM_001366906.1:c.817-1106C>T | NP_001353835.1:n.817-1106C>T | |
| NM_001366908.1:c.679-1106C>T | NP_001353837.1:n.679-1106C>T | |
| XM_005269598.3:c.679-1106C>T | XP_005269655.1:n.679-1106C>T | |
| NM_001366905.2:c.553-1106C>T | NP_001353834.1:n.553-1106C>T | |
| NM_001366906.2:c.817-1106C>T MANE Select | NP_001353835.1:n.817-1106C>T | |
| NM_001366908.2:c.679-1106C>T | NP_001353837.1:n.679-1106C>T | |
| NM_173554.3:c.553-1106C>T | NP_775825.1:n.553-1106C>T |