HGVS | Genome Assembly |
---|---|
NC_000024.10:g.7700527C>A , CM000686.2:g.7700527C>A | GRCh38 |
NC_000024.9:g.7568568C>A , CM000686.1:g.7568568C>A | GRCh37 |
NC_000024.8:g.7628568C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651261.1:n.753+660G>T (RFTN1P1) | ||
NR_001552.1:n.61+660G>T (TTTY16) |