HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493517T>G , CM000676.2:g.74493517T>G | GRCh38 |
NC_000014.8:g.74960220T>G , CM000676.1:g.74960220T>G | GRCh37 |
NC_000014.7:g.74029973T>G | NCBI36 |
NG_007117.1:g.4865A>C | |
NG_033074.1:g.4798T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-64+53A>C | ENSP00000450887.1:n.-64+53A>C | |
ENST00000556009.5:c.147+514A>C |