HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73404219G>T , CM000666.2:g.73404219G>T | GRCh38 |
NC_000004.11:g.74269936G>T , CM000666.1:g.74269936G>T | GRCh37 |
NC_000004.10:g.74488800G>T | NCBI36 |
NG_009291.1:g.4965G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000441319.5:c.48-150G>T | ENSP00000392541.1:n.48-150G>T |