HGVS | Genome Assembly |
---|---|
NC_000024.10:g.15354425A>T , CM000686.2:g.15354425A>T | GRCh38 |
NC_000024.9:g.17466305A>T , CM000686.1:g.17466305A>T | GRCh37 |
NC_000024.8:g.15975699A>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000421058.1:n.291-5559T>A | ||
XR_001756089.1:n.87-5534T>A |