HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2818514A>G , CM000686.2:g.2818514A>G | GRCh38 |
NC_000024.9:g.2686555A>G , CM000686.1:g.2686555A>G | GRCh37 |
NC_000024.8:g.2746555A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.107-22972A>G | ||
ENST00000681787.1:n.107-22514A>G | ||
ENST00000681940.1:n.107-27132A>G |