HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127800472A>T , CM000671.2:g.127800472A>T | GRCh38 |
NC_000009.11:g.130562751A>T , CM000671.1:g.130562751A>T | GRCh37 |
NC_000009.10:g.129602572A>T | NCBI36 |
NG_023245.1:g.2598A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000479147.6:n.217-3813A>T | ||
ENST00000479375.6:n.132-3813A>T |