HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73404235C>A , CM000666.2:g.73404235C>A | GRCh38 |
NC_000004.11:g.74269952C>A , CM000666.1:g.74269952C>A | GRCh37 |
NC_000004.10:g.74488816C>A | NCBI36 |
NG_009291.1:g.4981C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000441319.5:c.48-134C>A | ENSP00000392541.1:n.48-134C>A |