HGVS | Genome Assembly |
---|---|
NC_000012.12:g.80943679T>A , CM000674.2:g.80943679T>A | GRCh38 |
NC_000012.11:g.81337458T>A , CM000674.1:g.81337458T>A | GRCh37 |
NC_000012.10:g.79861589T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650935.1:n.61-5586T>A | ||
ENST00000549175.1:c.-151+5761T>A | ENSP00000447748.1:n.-151+5761T>A |