HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30235874A>G , CM000679.2:g.30235874A>G | GRCh38 |
NC_000017.10:g.28562892A>G , CM000679.1:g.28562892A>G | GRCh37 |
NC_000017.9:g.25587018A>G | NCBI36 |
NG_011747.2:g.5063T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261707.7:c.-482T>C | ENSP00000261707.3:n.-482T>C | |
ENST00000401766.6:c.-385T>C | ENSP00000385822.2:n.-385T>C | |
NM_001045.5:c.-482T>C | NP_001036.1:n.-482T>C |