HGVS | Genome Assembly |
---|---|
NC_000013.11:g.46897312A>G , CM000675.2:g.46897312A>G | GRCh38 |
NC_000013.10:g.47471447A>G , CM000675.1:g.47471447A>G | GRCh37 |
NC_000013.9:g.46369448A>G | NCBI36 |
NG_013011.1:g.4723T>C |
HGVS | Amino-acid change | |
---|---|---|
NM_001378924.1:c.-329+640T>C | NP_001365853.1:n.-329+640T>C |