HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86739728G>A , CM000670.2:g.86739728G>A | GRCh38 |
NC_000008.10:g.87751956G>A , CM000670.1:g.87751956G>A | GRCh37 |
NC_000008.9:g.87821072G>A | NCBI36 |
NG_016980.1:g.8948C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.138C>T MANE Select | ENSP00000316605.5:p.Asn46= | |
ENST00000681746.1:c.138C>T | ENSP00000505959.1:p.Asn46= | |
ENST00000320005.5:c.138C>T | ENSP00000316605.5:p.Asn46= | |
ENST00000519777.1:n.120C>T | ||
NM_019098.4:c.138C>T | NP_061971.3:p.Asn46= | |
NM_019098.5:c.138C>T MANE Select | NP_061971.3:p.Asn46= |