HGVS | Genome Assembly |
---|---|
NC_000014.9:g.73136425C>A , CM000676.2:g.73136425C>A | GRCh38 |
NC_000014.8:g.73603133C>A , CM000676.1:g.73603133C>A | GRCh37 |
NC_000014.7:g.72672886C>A | NCBI36 |
NG_007386.2:g.4955C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000700265.1:c.-127C>A | ENSP00000514901.1:n.-127C>A | |
ENST00000557356.5:c.-159C>A | ENSP00000451498.1:n.-159C>A |