HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94043427C>A , CM000663.2:g.94043427C>A | GRCh38 |
NC_000001.10:g.94508983C>A , CM000663.1:g.94508983C>A | GRCh37 |
NC_000001.9:g.94281571C>A | NCBI36 |
NG_009073.1:g.82723G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.3099G>T MANE Select | ENSP00000359245.3:p.Lys1033Asn | |
ENST00000370225.3:c.3099G>T | ENSP00000359245.3:p.Lys1033Asn | |
ENST00000536513.5:c.-64-3338G>T | ENSP00000439707.2:n.-64-3338G>T | |
NM_000350.2:c.3099G>T | NP_000341.2:p.Lys1033Asn | |
NM_000350.3:c.3099G>T MANE Select | NP_000341.2:p.Lys1033Asn |