HGVS | Genome Assembly |
---|---|
NC_000005.10:g.65051830T>C , CM000667.2:g.65051830T>C | GRCh38 |
NC_000005.9:g.64347657T>C , CM000667.1:g.64347657T>C | GRCh37 |
NC_000005.8:g.64383413T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000693303.1:c.1153-47422T>C | ENSP00000508557.1:n.1153-47422T>C |