HGVS | Genome Assembly |
---|---|
NC_000016.10:g.172848A>C , CM000678.2:g.172848A>C | GRCh38 |
NC_000016.9:g.222847A>C , CM000678.1:g.222847A>C | GRCh37 |
NC_000016.8:g.162847A>C | NCBI36 |
NG_000006.1:g.33711A>C | |
NG_059186.1:g.1198A>C | |
NG_059271.1:g.5002A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.10:c.-65A>C | ENSP00000251595.6:n.-65A>C | |
NM_000517.4:c.-65A>C | NP_000508.1:n.-65A>C |