Linked Data
dbSNP Id:
rs1561813865
gnomAD v2:
6-42928237-C-G
gnomAD v3:
6-42960499-C-G
gnomAD v4:
6-42960499-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42960499C>G , CM000668.2:g.42960499C>G | GRCh38 |
| NC_000006.11:g.42928237C>G , CM000668.1:g.42928237C>G | GRCh37 |
| NC_000006.10:g.43036215C>G | NCBI36 |
| NG_008396.1:g.4738C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011514493.1:c.-13-1713C>G | XP_011512795.1:n.-13-1713C>G | |
| XM_011514494.1:c.-13-1713C>G | XP_011512796.1:n.-13-1713C>G | |
| NM_001318856.1:c.9-1713C>G | NP_001305785.1:n.9-1713C>G | |
| NM_001318857.1:c.152-2263C>G | NP_001305786.1:n.152-2263C>G | |
| NM_001318858.1:c.152-2263C>G | NP_001305787.1:n.152-2263C>G | |
| NR_134890.1:n.690-2263C>G | ||
| NR_134891.1:n.593-2263C>G | ||
| NR_134892.1:n.593-1713C>G | ||
| NM_001318856.2:c.9-1713C>G | NP_001305785.1:n.9-1713C>G | |
| NM_001318857.2:c.152-2263C>G | NP_001305786.1:n.152-2263C>G | |
| NM_001318858.2:c.152-2263C>G | NP_001305787.1:n.152-2263C>G | |
| NR_134890.2:n.340-2263C>G | ||
| NR_134891.2:n.243-2263C>G | ||
| NR_134892.2:n.243-1713C>G |