HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111071501A>C , CM000667.2:g.111071501A>C | GRCh38 |
NC_000005.9:g.110407199A>C , CM000667.1:g.110407199A>C | GRCh37 |
NC_000005.8:g.110435098A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000420978.6:c.18A>C | ENSP00000399099.2:p.Gln6His | |
NR_045089.1:n.1422A>C | ||
NR_045089.2:n.1440A>C |