HGVS | Genome Assembly |
---|---|
NC_000013.11:g.30730984C>A , CM000675.2:g.30730984C>A | GRCh38 |
NC_000013.10:g.31305121C>A , CM000675.1:g.31305121C>A | GRCh37 |
NC_000013.9:g.30203121C>A | NCBI36 |
NG_011963.2:g.22507C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617770.4:c.117-4567C>A | ENSP00000479870.1:n.117-4567C>A | |
NM_001204406.1:c.117-4567C>A | NP_001191335.1:n.117-4567C>A | |
NM_001204406.2:c.117-4567C>A | NP_001191335.1:n.117-4567C>A |