HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48472652A= , CM000677.2:g.48472652A= | GRCh38 |
NC_000015.9:g.48764849A= , CM000677.1:g.48764849A= | GRCh37 |
NC_000015.8:g.46552141A= | NCBI36 |
NG_008805.2:g.178137T= , LRG_778:g.178137T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4235T= | ENSP00000453958.2:p.Leu1412= | |
ENST00000674301.2:c.4235T= | ENSP00000501333.2:p.Leu1412= | |
ENST00000683268.1:n.202T= | ||
ENST00000684448.1:n.2909T= | ||
ENST00000316623.10:c.4235T= MANE Select | ENSP00000325527.5:p.Leu1412= | |
ENST00000316623.9:c.4235T= | ENSP00000325527.5:p.Leu1412= | |
ENST00000537463.6:c.907T= | ENSP00000440294.2:p.Ter303= | |
NM_000138.4:c.4235T= , LRG_778t1:c.4235T= | NP_000129.3:p.Leu1412= | |
NM_000138.5:c.4235T= MANE Select | NP_000129.3:p.Leu1412= |