HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152788G>A , CM000677.2:g.80152788G>A | GRCh38 |
NC_000015.9:g.80445130G>A , CM000677.1:g.80445130G>A | GRCh37 |
NC_000015.8:g.78232185G>A | NCBI36 |
NG_012833.1:g.4790G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000407106.5:c.-147G>A | ENSP00000385080.1:n.-147G>A | |
ENST00000558022.5:c.-29-238G>A | ENSP00000453152.1:n.-29-238G>A |