HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189008422C>T , CM000664.2:g.189008422C>T | GRCh38 |
NC_000002.11:g.189873148C>T , CM000664.1:g.189873148C>T | GRCh37 |
NC_000002.10:g.189581393C>T | NCBI36 |
NG_007404.1:g.39050C>T , LRG_3:g.39050C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.3426+280C>T | ENSP00000415346.2:n.3426+280C>T | |
ENST00000304636.9:c.3525+280C>T MANE Select | ENSP00000304408.4:n.3525+280C>T | |
ENST00000304636.7:c.3525+280C>T | ENSP00000304408.3:n.3525+280C>T | |
ENST00000317840.9:c.2616+280C>T | ENSP00000315243.6:n.2616+280C>T | |
ENST00000487010.1:n.121C>T | ||
NM_000090.3:c.3525+280C>T , LRG_3t1:c.3525+280C>T | NP_000081.1:n.3525+280C>T | |
NM_000090.4:c.3525+280C>T MANE Select | NP_000081.2:n.3525+280C>T |