HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127800346T>G , CM000671.2:g.127800346T>G | GRCh38 |
NC_000009.11:g.130562625T>G , CM000671.1:g.130562625T>G | GRCh37 |
NC_000009.10:g.129602446T>G | NCBI36 |
NG_023245.1:g.2472T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000479147.6:n.217-3939T>G | ||
ENST00000479375.6:n.132-3939T>G |