HGVS | Genome Assembly |
---|---|
NC_000016.10:g.172981C>G , CM000678.2:g.172981C>G | GRCh38 |
NC_000016.9:g.222980C>G , CM000678.1:g.222980C>G | GRCh37 |
NC_000016.8:g.162980C>G | NCBI36 |
NG_000006.1:g.33844C>G | |
NG_059186.1:g.1331C>G | |
NG_059271.1:g.5135C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.69C>G MANE Select | ENSP00000251595.6:p.Gly23= | |
ENST00000251595.10:c.69C>G | ENSP00000251595.6:p.Gly23= | |
ENST00000397806.1:c.-2+23C>G | ENSP00000380908.1:n.-2+23C>G | |
ENST00000482565.1:n.88C>G | ||
ENST00000484216.1:n.38C>G | ||
NM_000517.4:c.69C>G | NP_000508.1:p.Gly23= | |
NM_000517.6:c.69C>G MANE Select | NP_000508.1:p.Gly23= |