HGVS | Genome Assembly |
---|---|
NC_000012.12:g.40429428A>C , CM000674.2:g.40429428A>C | GRCh38 |
NC_000012.11:g.40823230A>C , CM000674.1:g.40823230A>C | GRCh37 |
NC_000012.10:g.39109497A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000454784.10:c.2397-114A>C | ENSP00000508949.1:n.2397-114A>C | |
ENST00000454784.9:n.2443-114A>C | ||
NM_173600.2:c.2397-114A>C | NP_775871.2:n.2397-114A>C | |
XR_944866.1:n.75-9117T>G | ||
XR_944867.1:n.75-9117T>G | ||
XR_944868.1:n.75-9117T>G | ||
XR_944869.1:n.75-9117T>G | ||
XR_944870.1:n.75-9117T>G | ||
XR_944871.1:n.75-9117T>G | ||
XR_944872.1:n.81-9117T>G | ||
XR_944873.1:n.75-9117T>G | ||
XR_001749087.1:n.75-9117T>G | ||
XR_001749088.1:n.75-9117T>G | ||
XR_944868.2:n.75-9117T>G | ||
XR_944869.2:n.75-9117T>G |