HGVS | Genome Assembly |
---|---|
NC_000011.10:g.94522050A>C , CM000673.2:g.94522050A>C | GRCh38 |
NC_000011.9:g.94255216A>C , CM000673.1:g.94255216A>C | GRCh37 |
NC_000011.8:g.93894864A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000542198.3:c.250+4363A>C MANE Select | ENSP00000490577.1:n.250+4363A>C | |
NM_001190462.1:c.250+4363A>C | NP_001177391.1:n.250+4363A>C | |
NM_001190462.2:c.250+4363A>C MANE Select | NP_001177391.1:n.250+4363A>C |