HGVS | Genome Assembly |
---|---|
NC_000015.10:g.26774258A>G , CM000677.2:g.26774258A>G | GRCh38 |
NC_000015.9:g.27019405A>G , CM000677.1:g.27019405A>G | GRCh37 |
NC_000015.8:g.24570498A>G | NCBI36 |
NG_012836.1:g.4523T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000541819.6:c.249-1486T>C | ENSP00000442408.2:n.249-1486T>C | |
ENST00000557641.5:n.453-1486T>C |