Linked Data
ClinVar Variation Id:
1283888
ClinVar RCV Id:
RCV001691928
dbSNP Id:
rs10948059
ExAC:
6:42928461 C / T
gnomAD v2:
6-42928461-C-T
gnomAD v3:
6-42960723-C-T
gnomAD v4:
6-42960723-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42960723C>T , CM000668.2:g.42960723C>T | GRCh38 |
| NC_000006.11:g.42928461C>T , CM000668.1:g.42928461C>T | GRCh37 |
| NC_000006.10:g.43036439C>T | NCBI36 |
| NG_008396.1:g.4962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011514493.1:c.-13-1489C>T | XP_011512795.1:n.-13-1489C>T | |
| XM_011514494.1:c.-13-1489C>T | XP_011512796.1:n.-13-1489C>T | |
| NM_001318856.1:c.9-1489C>T | NP_001305785.1:n.9-1489C>T | |
| NM_001318857.1:c.152-2039C>T | NP_001305786.1:n.152-2039C>T | |
| NM_001318858.1:c.152-2039C>T | NP_001305787.1:n.152-2039C>T | |
| NR_134890.1:n.690-2039C>T | ||
| NR_134891.1:n.593-2039C>T | ||
| NR_134892.1:n.593-1489C>T | ||
| NM_001318856.2:c.9-1489C>T | NP_001305785.1:n.9-1489C>T | |
| NM_001318857.2:c.152-2039C>T | NP_001305786.1:n.152-2039C>T | |
| NM_001318858.2:c.152-2039C>T | NP_001305787.1:n.152-2039C>T | |
| NR_134890.2:n.340-2039C>T | ||
| NR_134891.2:n.243-2039C>T | ||
| NR_134892.2:n.243-1489C>T |