HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152304856C>A , CM000663.2:g.152304856C>A | GRCh38 |
NC_000001.10:g.152277332C>A , CM000663.1:g.152277332C>A | GRCh37 |
NC_000001.9:g.150543956C>A | NCBI36 |
NG_016190.1:g.25348G>T , LRG_1028:g.25348G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368799.2:c.10030G>T MANE Select | ENSP00000357789.1:p.Glu3344Ter | |
ENST00000368799.1:c.10030G>T | ENSP00000357789.1:p.Glu3344Ter | |
NM_002016.1:c.10030G>T , LRG_1028t1:c.10030G>T | NP_002007.1:p.Glu3344Ter | |
XM_011509329.1:c.9108+922G>T | XP_011507631.1:n.9108+922G>T | |
NM_002016.2:c.10030G>T MANE Select | NP_002007.1:p.Glu3344Ter |