HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774208A>T , CM000683.2:g.43774208A>T | GRCh38 |
NC_000021.8:g.45194089A>T , CM000683.1:g.45194089A>T | GRCh37 |
NC_000021.7:g.44018517A>T | NCBI36 |
NG_011545.1:g.7171T>A , LRG_485:g.7171T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.291T>A MANE Select | ENSP00000291568.6:p.Tyr97Ter | |
ENST00000480147.3:n.2061T>A | ||
ENST00000639959.1:c.158T>A | ||
ENST00000640406.1:c.*366T>A | ENSP00000492672.1:n.*366T>A | |
ENST00000675996.1:n.716T>A | ||
ENST00000291568.5:c.291T>A | ENSP00000291568.5:p.Tyr97Ter | |
ENST00000480147.1:n.655T>A | ||
NM_000100.3:c.291T>A , LRG_485t1:c.291T>A | NP_000091.1:p.Tyr97Ter | |
NM_000100.4:c.291T>A MANE Select | NP_000091.1:p.Tyr97Ter |