HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48422068T= , CM000677.2:g.48422068T= | GRCh38 |
NC_000015.9:g.48714265T= , CM000677.1:g.48714265T= | GRCh37 |
NC_000015.8:g.46501557T= | NCBI36 |
NG_008805.2:g.228721A= , LRG_778:g.228721A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*262A= | ENSP00000453958.2:n.*262A= | |
ENST00000674301.2:c.*967A= | ENSP00000501333.2:n.*967A= | |
ENST00000682170.1:n.1635A= | ||
ENST00000682767.1:n.751A= | ||
ENST00000316623.10:c.7454A= MANE Select | ENSP00000325527.5:p.Asp2485= | |
ENST00000674301.1:c.2620A= | ENSP00000501333.1:n.2620A= | |
ENST00000316623.9:c.7454A= | ENSP00000325527.5:p.Asp2485= | |
ENST00000559133.5:c.2823A= | ||
NM_000138.4:c.7454A= , LRG_778t1:c.7454A= | NP_000129.3:p.Asp2485= | |
NM_000138.5:c.7454A= MANE Select | NP_000129.3:p.Asp2485= |