HGVS | Genome Assembly |
---|---|
NC_000005.10:g.179127946G>C , CM000667.2:g.179127946G>C | GRCh38 |
NC_000005.9:g.178554947G>C , CM000667.1:g.178554947G>C | GRCh37 |
NC_000005.8:g.178487553G>C | NCBI36 |
NG_023212.2:g.222383C>G | |
NG_023212.3:g.222383C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698889.1:c.2617+13C>G | ENSP00000514008.1:n.2617+13C>G | |
ENST00000251582.12:c.2617+13C>G MANE Select | ENSP00000251582.7:n.2617+13C>G | |
ENST00000518335.3:c.2617+13C>G | ENSP00000489888.2:n.2617+13C>G | |
ENST00000251582.11:c.2617+13C>G | ENSP00000251582.7:n.2617+13C>G | |
NM_014244.4:c.2617+13C>G | NP_055059.2:n.2617+13C>G | |
NM_014244.5:c.2617+13C>G MANE Select | NP_055059.2:n.2617+13C>G |