HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774645G= , CM000683.2:g.43774645G= | GRCh38 |
NC_000021.8:g.45194526G= , CM000683.1:g.45194526G= | GRCh37 |
NC_000021.7:g.44018954G= | NCBI36 |
NG_011545.1:g.6734C= , LRG_485:g.6734C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.168+13C= MANE Select | ENSP00000291568.6:n.168+13C= | |
ENST00000480147.3:n.1624C= | ||
ENST00000639959.1:c.36-315C= | ||
ENST00000640406.1:c.181C= | ENSP00000492672.1:p.Pro61= | |
ENST00000675996.1:n.593+13C= | ||
ENST00000291568.5:c.168+13C= | ENSP00000291568.5:n.168+13C= | |
ENST00000480147.1:n.218C= | ||
NM_000100.3:c.168+13C= , LRG_485t1:c.168+13C= | NP_000091.1:n.168+13C= | |
NM_000100.4:c.168+13C= MANE Select | NP_000091.1:n.168+13C= |