HGVS | Genome Assembly |
---|---|
NC_000024.10:g.13871134T>C , CM000686.2:g.13871134T>C | GRCh38 |
NC_000024.9:g.15983014T>C , CM000686.1:g.15983014T>C | GRCh37 |
NC_000024.8:g.14492408T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000652544.1:n.1031-499T>C | ||
ENST00000460561.1:n.607-499T>C | ||
ENST00000472227.5:n.806-548T>C |