Linked Data
dbSNP Id:
rs761055787
ExAC:
12:40823326 A / G
gnomAD v2:
12-40823326-A-G
gnomAD v4:
12-40429524-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40429524A>G , CM000674.2:g.40429524A>G | GRCh38 |
| NC_000012.11:g.40823326A>G , CM000674.1:g.40823326A>G | GRCh37 |
| NC_000012.10:g.39109593A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454784.10:c.2397-18A>G | ENSP00000508949.1:n.2397-18A>G | |
| ENST00000454784.9:n.2443-18A>G | ||
| NM_173600.2:c.2397-18A>G | NP_775871.2:n.2397-18A>G | |
| XR_944866.1:n.75-9213T>C | ||
| XR_944867.1:n.75-9213T>C | ||
| XR_944868.1:n.75-9213T>C | ||
| XR_944869.1:n.75-9213T>C | ||
| XR_944870.1:n.75-9213T>C | ||
| XR_944871.1:n.75-9213T>C | ||
| XR_944872.1:n.81-9213T>C | ||
| XR_944873.1:n.75-9213T>C | ||
| XR_001749087.1:n.75-9213T>C | ||
| XR_001749088.1:n.75-9213T>C | ||
| XR_944868.2:n.75-9213T>C | ||
| XR_944869.2:n.75-9213T>C |