HGVS | Genome Assembly |
---|---|
NC_000013.11:g.46897247G>T , CM000675.2:g.46897247G>T | GRCh38 |
NC_000013.10:g.47471382G>T , CM000675.1:g.47471382G>T | GRCh37 |
NC_000013.9:g.46369383G>T | NCBI36 |
NG_013011.1:g.4788C>A |
HGVS | Amino-acid change | |
---|---|---|
NM_001378924.1:c.-329+705C>A | NP_001365853.1:n.-329+705C>A |