Linked Data
dbSNP Id:
rs758484117
ExAC:
12:40823389 T / C
gnomAD v2:
12-40823389-T-C
gnomAD v4:
12-40429587-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40429587T>C , CM000674.2:g.40429587T>C | GRCh38 |
| NC_000012.11:g.40823389T>C , CM000674.1:g.40823389T>C | GRCh37 |
| NC_000012.10:g.39109656T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454784.10:c.2442T>C | ENSP00000508949.1:p.Pro814= | |
| ENST00000454784.9:n.2488T>C | ||
| NM_173600.2:c.2442T>C | NP_775871.2:p.Pro814= | |
| XR_944866.1:n.75-9276A>G | ||
| XR_944867.1:n.75-9276A>G | ||
| XR_944868.1:n.75-9276A>G | ||
| XR_944869.1:n.75-9276A>G | ||
| XR_944870.1:n.75-9276A>G | ||
| XR_944871.1:n.75-9276A>G | ||
| XR_944872.1:n.81-9276A>G | ||
| XR_944873.1:n.75-9276A>G | ||
| XR_001749087.1:n.75-9276A>G | ||
| XR_001749088.1:n.75-9276A>G | ||
| XR_944868.2:n.75-9276A>G | ||
| XR_944869.2:n.75-9276A>G |