HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493525G>C , CM000676.2:g.74493525G>C | GRCh38 |
NC_000014.8:g.74960228G>C , CM000676.1:g.74960228G>C | GRCh37 |
NC_000014.7:g.74029981G>C | NCBI36 |
NG_007117.1:g.4857C>G | |
NG_033074.1:g.4806G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-64+45C>G | ENSP00000450887.1:n.-64+45C>G | |
ENST00000556009.5:c.147+506C>G |