HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493568A>G , CM000676.2:g.74493568A>G | GRCh38 |
NC_000014.8:g.74960271A>G , CM000676.1:g.74960271A>G | GRCh37 |
NC_000014.7:g.74030024A>G | NCBI36 |
NG_007117.1:g.4814T>C | |
NG_033074.1:g.4849A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-64+2T>C | ENSP00000450887.1:n.-64+2T>C | |
ENST00000556009.5:c.147+463T>C |