HGVS | Genome Assembly |
---|---|
NC_000016.10:g.172996G= , CM000678.2:g.172996G= | GRCh38 |
NC_000016.9:g.222995G= , CM000678.1:g.222995G= | GRCh37 |
NC_000016.8:g.162995G= | NCBI36 |
NG_000006.1:g.33859G= | |
NG_059186.1:g.1346G= | |
NG_059271.1:g.5150G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.84G= MANE Select | ENSP00000251595.6:p.Glu28= | |
ENST00000251595.10:c.84G= | ENSP00000251595.6:p.Glu28= | |
ENST00000397806.1:c.-2+38G= | ENSP00000380908.1:n.-2+38G= | |
ENST00000482565.1:n.103G= | ||
ENST00000484216.1:n.53G= | ||
NM_000517.4:c.84G= | NP_000508.1:p.Glu28= | |
NM_000517.6:c.84G= MANE Select | NP_000508.1:p.Glu28= |