HGVS | Genome Assembly |
---|---|
NC_000011.10:g.94521997C>T , CM000673.2:g.94521997C>T | GRCh38 |
NC_000011.9:g.94255163C>T , CM000673.1:g.94255163C>T | GRCh37 |
NC_000011.8:g.93894811C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000542198.3:c.250+4310C>T MANE Select | ENSP00000490577.1:n.250+4310C>T | |
NM_001190462.1:c.250+4310C>T | NP_001177391.1:n.250+4310C>T | |
NM_001190462.2:c.250+4310C>T MANE Select | NP_001177391.1:n.250+4310C>T |