HGVS | Genome Assembly |
---|---|
NC_000002.12:g.17933588G>A , CM000664.2:g.17933588G>A | GRCh38 |
NC_000002.11:g.18114855G>A , CM000664.1:g.18114855G>A | GRCh37 |
NC_000002.10:g.17978336G>A | NCBI36 |
NG_012873.1:g.59911G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000465292.5:n.305+15717G>A |