HGVS | Genome Assembly |
---|---|
NC_000013.11:g.39328847C>G , CM000675.2:g.39328847C>G | GRCh38 |
NC_000013.10:g.39902984C>G , CM000675.1:g.39902984C>G | GRCh37 |
NC_000013.9:g.38800984C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648377.1:c.*82+15007G>C | ENSP00000496801.1:n.*82+15007G>C | |
XR_001749845.1:n.1449+7424G>C |