HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169492826A>G , CM000664.2:g.169492826A>G | GRCh38 |
NC_000002.11:g.170349336A>G , CM000664.1:g.170349336A>G | GRCh37 |
NC_000002.10:g.170057582A>G | NCBI36 |
NG_011567.1:g.18331A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295240.8:c.387-48A>G MANE Select | ENSP00000295240.3:n.387-48A>G | |
ENST00000295240.7:c.387-48A>G | ENSP00000295240.3:n.387-48A>G | |
ENST00000392663.6:c.387-48A>G | ENSP00000376431.2:n.387-48A>G | |
ENST00000443151.1:c.*109-48A>G | ENSP00000406182.1:n.*109-48A>G | |
ENST00000475571.1:n.354-48A>G | ||
ENST00000513963.1:c.387-48A>G | ENSP00000424363.1:n.387-48A>G | |
NM_152384.2:c.387-48A>G | NP_689597.1:n.387-48A>G | |
NM_152384.3:c.387-48A>G MANE Select | NP_689597.1:n.387-48A>G |