HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493601T>C , CM000676.2:g.74493601T>C | GRCh38 |
NC_000014.8:g.74960304T>C , CM000676.1:g.74960304T>C | GRCh37 |
NC_000014.7:g.74030057T>C | NCBI36 |
NG_007117.1:g.4781A>G | |
NG_033074.1:g.4882T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-95A>G | ENSP00000450887.1:n.-95A>G | |
ENST00000556009.5:c.147+430A>G |