HGVS | Genome Assembly |
---|---|
NC_000023.11:g.101348348C= , CM000685.2:g.101348348C= | GRCh38 |
NC_000023.10:g.100603336C= , CM000685.1:g.100603336C= | GRCh37 |
NC_000023.9:g.100489992C= | NCBI36 |
NG_009616.1:g.42877G= , LRG_128:g.42877G= | |
NG_011734.1:g.5622G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372902.4:c.132+185G= MANE Select | ENSP00000361993.3:n.132+185G= | |
ENST00000644112.2:c.*39G= | ENSP00000494385.1:n.*39G= | |
ENST00000645279.1:c.*39G= | ENSP00000494239.1:n.*39G= | |
ENST00000647480.1:n.228G= | ||
ENST00000372902.3:c.132+185G= | ENSP00000361993.3:n.132+185G= | |
ENST00000480575.1:n.271G= | ||
NM_001145951.1:c.*39G= | NP_001139423.1:n.*39G= | |
NM_004085.3:c.132+185G= | NP_004076.1:n.132+185G= | |
NM_004085.4:c.132+185G= MANE Select | NP_004076.1:n.132+185G= | |
NM_001145951.2:c.*39G= | NP_001139423.1:n.*39G= |