HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157737T>C , CM000681.2:g.55157737T>C | GRCh38 |
NC_000019.9:g.55669105T>C , CM000681.1:g.55669105T>C | GRCh37 |
NC_000019.8:g.60360917T>C | NCBI36 |
NG_007866.2:g.4996A>G , LRG_432:g.4996A>G | |
NG_032759.1:g.13986A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000587176.5:n.37A>G | ||
ENST00000587871.1:c.480-7A>G |