HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352072G>T , CM000679.2:g.44352072G>T | GRCh38 |
NC_000017.10:g.42429440G>T , CM000679.1:g.42429440G>T | GRCh37 |
NC_000017.9:g.39784966G>T | NCBI36 |
NG_007886.1:g.11950G>T , LRG_661:g.11950G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1237G>T MANE Select | ENSP00000053867.2:p.Glu413Ter | |
ENST00000639447.1:c.1136+320G>T | ENSP00000492014.1:n.1136+320G>T | |
ENST00000053867.7:c.1237G>T | ENSP00000053867.2:p.Glu413Ter | |
ENST00000586443.1:c.678G>T | ||
ENST00000589265.5:c.766G>T | ENSP00000467616.1:p.Glu256Ter | |
NM_002087.3:c.1237G>T | NP_002078.1:p.Glu413Ter | |
XM_005257253.1:c.1237G>T | XP_005257310.1:p.Glu413Ter | |
XM_024450730.1:c.1237G>T | XP_024306498.1:p.Glu413Ter | |
NM_002087.4:c.1237G>T MANE Select | NP_002078.1:p.Glu413Ter |