HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493602G= , CM000676.2:g.74493602G= | GRCh38 |
NC_000014.8:g.74960305G= , CM000676.1:g.74960305G= | GRCh37 |
NC_000014.7:g.74030058G= | NCBI36 |
NG_007117.1:g.4780C= | |
NG_033074.1:g.4883G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-96C= | ENSP00000450887.1:n.-96C= | |
ENST00000556009.5:c.147+429C= |