HGVS | Genome Assembly |
---|---|
NC_000001.11:g.214622212G>T , CM000663.2:g.214622212G>T | GRCh38 |
NC_000001.10:g.214795555G>T , CM000663.1:g.214795555G>T | GRCh37 |
NC_000001.9:g.212862178G>T | NCBI36 |
NG_046787.1:g.24034G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706764.1:n.1177G>T | ||
ENST00000706765.1:c.999G>T | ENSP00000516538.1:p.Glu333Asp | |
ENST00000366955.8:c.999G>T MANE Select | ENSP00000355922.3:p.Glu333Asp | |
ENST00000366955.7:c.999G>T | ENSP00000355922.3:p.Glu333Asp | |
NM_016343.3:c.999G>T | NP_057427.3:p.Glu333Asp | |
XM_011509082.1:c.999G>T | XP_011507384.1:p.Glu333Asp | |
XM_011509082.3:c.999G>T | XP_011507384.1:p.Glu333Asp | |
XM_017000086.2:c.999G>T | XP_016855575.1:p.Glu333Asp | |
NM_016343.4:c.999G>T MANE Select | NP_057427.3:p.Glu333Asp |