HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774654C= , CM000683.2:g.43774654C= | GRCh38 |
NC_000021.8:g.45194535C= , CM000683.1:g.45194535C= | GRCh37 |
NC_000021.7:g.44018963C= | NCBI36 |
NG_011545.1:g.6725G= , LRG_485:g.6725G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.168+4G= MANE Select | ENSP00000291568.6:n.168+4G= | |
ENST00000480147.3:n.1615G= | ||
ENST00000639959.1:c.36-324G= | ||
ENST00000640406.1:c.172G= | ENSP00000492672.1:p.Glu58= | |
ENST00000675996.1:n.593+4G= | ||
ENST00000291568.5:c.168+4G= | ENSP00000291568.5:n.168+4G= | |
ENST00000480147.1:n.209G= | ||
NM_000100.3:c.168+4G= , LRG_485t1:c.168+4G= | NP_000091.1:n.168+4G= | |
NM_000100.4:c.168+4G= MANE Select | NP_000091.1:n.168+4G= |