HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173148C>A , CM000678.2:g.173148C>A | GRCh38 |
NC_000016.9:g.223147C>A , CM000678.1:g.223147C>A | GRCh37 |
NC_000016.8:g.163147C>A | NCBI36 |
NG_000006.1:g.34011C>A | |
NG_059186.1:g.1498C>A | |
NG_059271.1:g.5302C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.119C>A MANE Select | ENSP00000251595.6:p.Thr40Asn | |
ENST00000251595.10:c.119C>A | ENSP00000251595.6:p.Thr40Asn | |
ENST00000397806.1:c.23C>A | ENSP00000380908.1:p.Thr8Asn | |
ENST00000482565.1:n.255C>A | ||
ENST00000484216.1:n.88C>A | ||
NM_000517.4:c.119C>A | NP_000508.1:p.Thr40Asn | |
NM_000517.6:c.119C>A MANE Select | NP_000508.1:p.Thr40Asn |