HGVS | Genome Assembly |
---|---|
NC_000013.11:g.46897309G>A , CM000675.2:g.46897309G>A | GRCh38 |
NC_000013.10:g.47471444G>A , CM000675.1:g.47471444G>A | GRCh37 |
NC_000013.9:g.46369445G>A | NCBI36 |
NG_013011.1:g.4726C>T |
HGVS | Amino-acid change | |
---|---|---|
NM_001378924.1:c.-329+643C>T | NP_001365853.1:n.-329+643C>T |