HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2822715A>T , CM000686.2:g.2822715A>T | GRCh38 |
NC_000024.9:g.2690756A>T , CM000686.1:g.2690756A>T | GRCh37 |
NC_000024.8:g.2750756A>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.107-18771A>T | ||
ENST00000681787.1:n.107-18313A>T | ||
ENST00000681940.1:n.107-22931A>T |