HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10316041G>A , CM000681.2:g.10316041G>A | GRCh38 |
NC_000019.9:g.10426717G>A , CM000681.1:g.10426717G>A | GRCh37 |
NC_000019.8:g.10287717G>A | NCBI36 |
NG_034259.1:g.4975C>T |
HGVS | Amino-acid Change |
---|---|
ENST00000586529.1:c.1750C>T | ENSP00000467814.1:n.1750C>T |