HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48488457G= , CM000677.2:g.48488457G= | GRCh38 |
NC_000015.9:g.48780654G= , CM000677.1:g.48780654G= | GRCh37 |
NC_000015.8:g.46567946G= | NCBI36 |
NG_008805.2:g.162332C= , LRG_778:g.162332C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.3119C= | ENSP00000453958.2:p.Thr1040= | |
ENST00000674301.2:c.3119C= | ENSP00000501333.2:p.Thr1040= | |
ENST00000684448.1:n.1793C= | ||
ENST00000316623.10:c.3119C= MANE Select | ENSP00000325527.5:p.Thr1040= | |
ENST00000316623.9:c.3119C= | ENSP00000325527.5:p.Thr1040= | |
ENST00000537463.6:c.637-13807C= | ENSP00000440294.2:n.637-13807C= | |
NM_000138.4:c.3119C= , LRG_778t1:c.3119C= | NP_000129.3:p.Thr1040= | |
NM_000138.5:c.3119C= MANE Select | NP_000129.3:p.Thr1040= |