HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675865C>G , CM000685.2:g.38675865C>G | GRCh38 |
NC_000023.10:g.38535119C>G , CM000685.1:g.38535119C>G | GRCh37 |
NC_000023.9:g.38420063C>G | NCBI36 |
NG_009160.1:g.119389C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.597+5C>G MANE Select | ENSP00000367743.2:n.597+5C>G | |
ENST00000286824.6:c.648+5C>G | ENSP00000286824.6:n.648+5C>G | |
ENST00000378482.6:c.597+5C>G | ENSP00000367743.2:n.597+5C>G | |
ENST00000419600.3:n.541+5C>G | ||
ENST00000465127.1:c.687+5C>G | ENSP00000417050.1:n.687+5C>G | |
ENST00000471410.5:c.*623+5C>G | ENSP00000419290.1:n.*623+5C>G | |
ENST00000475216.5:c.*590+5C>G | ENSP00000418586.1:n.*590+5C>G | |
NM_004615.3:c.597+5C>G | NP_004606.2:n.597+5C>G | |
NM_004615.4:c.597+5C>G MANE Select | NP_004606.2:n.597+5C>G |