HGVS | Genome Assembly |
---|---|
NC_000016.10:g.172963G>A , CM000678.2:g.172963G>A | GRCh38 |
NC_000016.9:g.222962G>A , CM000678.1:g.222962G>A | GRCh37 |
NC_000016.8:g.162962G>A | NCBI36 |
NG_000006.1:g.33826G>A | |
NG_059186.1:g.1313G>A | |
NG_059271.1:g.5117G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.51G>A MANE Select | ENSP00000251595.6:p.Lys17= | |
ENST00000251595.10:c.51G>A | ENSP00000251595.6:p.Lys17= | |
ENST00000397806.1:c.-2+5G>A | ENSP00000380908.1:n.-2+5G>A | |
ENST00000482565.1:n.70G>A | ||
ENST00000484216.1:n.20G>A | ||
NM_000517.4:c.51G>A | NP_000508.1:p.Lys17= | |
NM_000517.6:c.51G>A MANE Select | NP_000508.1:p.Lys17= |