HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127800461A>G , CM000671.2:g.127800461A>G | GRCh38 |
NC_000009.11:g.130562740A>G , CM000671.1:g.130562740A>G | GRCh37 |
NC_000009.10:g.129602561A>G | NCBI36 |
NG_023245.1:g.2587A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000479147.6:n.217-3824A>G | ||
ENST00000479375.6:n.132-3824A>G |