HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111071490T>C , CM000667.2:g.111071490T>C | GRCh38 |
NC_000005.9:g.110407188T>C , CM000667.1:g.110407188T>C | GRCh37 |
NC_000005.8:g.110435087T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000420978.6:c.7T>C | ENSP00000399099.2:p.Cys3Arg | |
NR_045089.1:n.1411T>C | ||
NR_045089.2:n.1429T>C |