HGVS | Genome Assembly |
---|---|
NC_000011.10:g.117317340A>C , CM000673.2:g.117317340A>C | GRCh38 |
NC_000011.9:g.117188056A>C , CM000673.1:g.117188056A>C | GRCh37 |
NC_000011.8:g.116693266A>C | NCBI36 |
NG_029372.1:g.3917T>G | |
NG_033032.1:g.563A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000525734.5:c.-98+2612A>C | ENSP00000436609.1:n.-98+2612A>C | |
XM_017017364.1:c.-98+807A>C | XP_016872853.1:n.-98+807A>C |