HGVS | Genome Assembly |
---|---|
NC_000009.12:g.93954091G>T , CM000671.2:g.93954091G>T | GRCh38 |
NC_000009.11:g.96716373G>T , CM000671.1:g.96716373G>T | GRCh37 |
NC_000009.10:g.95756194G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253968.11:c.223+833C>A MANE Select | ENSP00000253968.5:n.223+833C>A | |
ENST00000253968.10:c.223+833C>A | ENSP00000253968.5:n.223+833C>A | |
NM_021570.3:c.223+833C>A | NP_067545.3:n.223+833C>A | |
NM_021570.4:c.223+833C>A MANE Select | NP_067545.3:n.223+833C>A |