HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39243509C>A , CM000681.2:g.39243509C>A | GRCh38 |
NC_000019.9:g.39734149C>A , CM000681.1:g.39734149C>A | GRCh37 |
NC_000019.8:g.44425989C>A | NCBI36 |
NG_042193.1:g.6463G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000613087.5:c.*123G>T | ENSP00000481633.1:n.*123G>T | |
NM_001346937.2:c.*123G>T | NP_001333866.1:n.*123G>T |