HGVS | Genome Assembly |
---|---|
NC_000013.11:g.112679479A>C , CM000675.2:g.112679479A>C | GRCh38 |
NC_000013.10:g.113333793A>C , CM000675.1:g.113333793A>C | GRCh37 |
NC_000013.9:g.112381794A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
NM_207440.2:c.100A>C | NP_997323.1:p.Lys34Gln | |
NR_164109.1:n.858A>C |