HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348244T= , CM000685.2:g.101348244T= | GRCh38 |
NC_000023.10:g.100603232T= , CM000685.1:g.100603232T= | GRCh37 |
NC_000023.9:g.100489888T= | NCBI36 |
NG_009616.1:g.42981A= , LRG_128:g.42981A= | |
NG_011734.1:g.5726A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.132+289A= MANE Select | ENSP00000361993.3:n.132+289A= | |
ENST00000644112.2:c.*143A= | ENSP00000494385.1:n.*143A= | |
ENST00000645279.1:c.*143A= | ENSP00000494239.1:n.*143A= | |
ENST00000647480.1:n.332A= | ||
ENST00000372902.3:c.132+289A= | ENSP00000361993.3:n.132+289A= | |
ENST00000480575.1:n.375A= | ||
NM_001145951.1:c.*143A= | NP_001139423.1:n.*143A= | |
NM_004085.3:c.132+289A= | NP_004076.1:n.132+289A= | |
NM_004085.4:c.132+289A= MANE Select | NP_004076.1:n.132+289A= | |
NM_001145951.2:c.*143A= | NP_001139423.1:n.*143A= |