HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774231C= , CM000683.2:g.43774231C= | GRCh38 |
NC_000021.8:g.45194112C= , CM000683.1:g.45194112C= | GRCh37 |
NC_000021.7:g.44018540C= | NCBI36 |
NG_011545.1:g.7148G= , LRG_485:g.7148G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.268G= MANE Select | ENSP00000291568.6:p.Ala90= | |
ENST00000480147.3:n.2038G= | ||
ENST00000639959.1:c.135G= | ||
ENST00000640406.1:c.*343G= | ENSP00000492672.1:n.*343G= | |
ENST00000675996.1:n.693G= | ||
ENST00000291568.5:c.268G= | ENSP00000291568.5:p.Ala90= | |
ENST00000480147.1:n.632G= | ||
NM_000100.3:c.268G= , LRG_485t1:c.268G= | NP_000091.1:p.Ala90= | |
NM_000100.4:c.268G= MANE Select | NP_000091.1:p.Ala90= |