HGVS | Genome Assembly |
---|---|
NC_000008.11:g.66468967G>C , CM000670.2:g.66468967G>C | GRCh38 |
NC_000008.10:g.67381202G>C , CM000670.1:g.67381202G>C | GRCh37 |
NC_000008.9:g.67543756G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648156.1:c.*540-2463G>C | ENSP00000497007.1:n.*540-2463G>C | |
ENST00000480040.5:n.396-2463G>C (ADHFE1) | ||
ENST00000482608.6:n.250+8502G>C (VXN) | ||
ENST00000519702.5:n.162+8502G>C (VXN) |