HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73404227T>A , CM000666.2:g.73404227T>A | GRCh38 |
NC_000004.11:g.74269944T>A , CM000666.1:g.74269944T>A | GRCh37 |
NC_000004.10:g.74488808T>A | NCBI36 |
NG_009291.1:g.4973T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000441319.5:c.48-142T>A | ENSP00000392541.1:n.48-142T>A |