HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48421962C= , CM000677.2:g.48421962C= | GRCh38 |
NC_000015.9:g.48714159C= , CM000677.1:g.48714159C= | GRCh37 |
NC_000015.8:g.46501451C= | NCBI36 |
NG_008805.2:g.228827G= , LRG_778:g.228827G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*368G= | ENSP00000453958.2:n.*368G= | |
ENST00000674301.2:c.*1073G= | ENSP00000501333.2:n.*1073G= | |
ENST00000682170.1:n.1741G= | ||
ENST00000682767.1:n.857G= | ||
ENST00000316623.10:c.7560G= MANE Select | ENSP00000325527.5:p.Thr2520= | |
ENST00000674301.1:c.2726G= | ENSP00000501333.1:n.2726G= | |
ENST00000316623.9:c.7560G= | ENSP00000325527.5:p.Thr2520= | |
ENST00000559133.5:c.2929G= | ||
NM_000138.4:c.7560G= , LRG_778t1:c.7560G= | NP_000129.3:p.Thr2520= | |
NM_000138.5:c.7560G= MANE Select | NP_000129.3:p.Thr2520= |