HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48303746C>A , CM000675.2:g.48303746C>A | GRCh38 |
NC_000013.10:g.48877882C>A , CM000675.1:g.48877882C>A | GRCh37 |
NC_000013.9:g.47775883C>A | NCBI36 |
NG_009009.1:g.5000C>A , LRG_517:g.5000C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646097.1:c.-167C>A | ENSP00000496556.1:n.-167C>A |