HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127800446C>A , CM000671.2:g.127800446C>A | GRCh38 |
NC_000009.11:g.130562725C>A , CM000671.1:g.130562725C>A | GRCh37 |
NC_000009.10:g.129602546C>A | NCBI36 |
NG_023245.1:g.2572C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000479147.6:n.217-3839C>A | ||
ENST00000479375.6:n.132-3839C>A |