HGVS | Genome Assembly |
---|---|
NC_000004.12:g.168488807T>C , CM000666.2:g.168488807T>C | GRCh38 |
NC_000004.11:g.169409958T>C , CM000666.1:g.169409958T>C | GRCh37 |
NC_000004.10:g.169646533T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000505150.5:n.601+1551A>G | ||
XR_001741448.2:n.2647A>G |