HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2791306A>C , CM000686.2:g.2791306A>C | GRCh38 |
NC_000024.9:g.2659347A>C , CM000686.1:g.2659347A>C | GRCh37 |
NC_000024.8:g.2719347A>C | NCBI36 |
NG_011751.1:g.1446T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+16567A>C | ||
ENST00000681787.1:n.106+16567A>C | ||
ENST00000681940.1:n.106+16567A>C |