HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173001T>A , CM000678.2:g.173001T>A | GRCh38 |
NC_000016.9:g.223000T>A , CM000678.1:g.223000T>A | GRCh37 |
NC_000016.8:g.163000T>A | NCBI36 |
NG_000006.1:g.33864T>A | |
NG_059186.1:g.1351T>A | |
NG_059271.1:g.5155T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.89T>A MANE Select | ENSP00000251595.6:p.Leu30Gln | |
ENST00000251595.10:c.89T>A | ENSP00000251595.6:p.Leu30Gln | |
ENST00000397806.1:c.-2+43T>A | ENSP00000380908.1:n.-2+43T>A | |
ENST00000482565.1:n.108T>A | ||
ENST00000484216.1:n.58T>A | ||
NM_000517.4:c.89T>A | NP_000508.1:p.Leu30Gln | |
NM_000517.6:c.89T>A MANE Select | NP_000508.1:p.Leu30Gln |