HGVS | Genome Assembly |
---|---|
NC_000017.11:g.78360132A>G , CM000679.2:g.78360132A>G | GRCh38 |
NC_000017.10:g.76356213A>G , CM000679.1:g.76356213A>G | GRCh37 |
NC_000017.9:g.73867808A>G | NCBI36 |
NG_016851.1:g.4946T>C , LRG_619:g.4946T>C |
HGVS | Amino-acid Change | |
---|---|---|
NM_001378933.1:c.-89+724T>C | NP_001365862.1:n.-89+724T>C |