HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74749487G>A , CM000677.2:g.74749487G>A | GRCh38 |
NC_000015.9:g.75041828G>A , CM000677.1:g.75041828G>A | GRCh37 |
NC_000015.8:g.72828881G>A | NCBI36 |
NG_008431.1:g.31946G>A | |
NG_008431.2:g.31946G>A | |
NG_061543.1:g.5643G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.-9-243G>A MANE Select | ENSP00000342007.4:n.-9-243G>A | |
ENST00000343932.4:c.-9-243G>A | ENSP00000342007.4:n.-9-243G>A | |
NM_000761.4:c.-9-243G>A | NP_000752.2:n.-9-243G>A | |
NM_000761.5:c.-9-243G>A MANE Select | NP_000752.2:n.-9-243G>A |