HGVS | Genome Assembly |
---|---|
NC_000006.12:g.117450168G= , CM000668.2:g.117450168G= | GRCh38 |
NC_000006.11:g.117771331G= , CM000668.1:g.117771331G= | GRCh37 |
NC_000006.10:g.117878024G= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000467125.1:c.547+116686C= | ENSP00000487717.1:n.547+116686C= |