HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128258710G>C , CM000667.2:g.128258710G>C | GRCh38 |
NC_000005.9:g.127594402G>C , CM000667.1:g.127594402G>C | GRCh37 |
NC_000005.8:g.127622301G>C | NCBI36 |
NG_008750.1:g.284334C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.*745C>G MANE Select | ENSP00000262464.4:n.*745C>G | |
ENST00000262464.8:c.*745C>G | ENSP00000262464.4:n.*745C>G | |
ENST00000508053.5:c.*745C>G | ENSP00000424571.1:n.*745C>G | |
ENST00000619499.4:c.9481C>G | ENSP00000482132.1:n.9481C>G | |
NM_001999.3:c.*745C>G | NP_001990.2:n.*745C>G | |
NM_001999.4:c.*745C>G MANE Select | NP_001990.2:n.*745C>G |