HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46010920A>T , CM000682.2:g.46010920A>T | GRCh38 |
NC_000020.10:g.44639559A>T , CM000682.1:g.44639559A>T | GRCh37 |
NC_000020.9:g.44072966A>T | NCBI36 |
NG_011468.1:g.7013A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.521-2A>T MANE Select | ENSP00000361405.3:n.521-2A>T | |
NM_004994.2:c.521-2A>T | NP_004985.2:n.521-2A>T | |
NM_004994.3:c.521-2A>T MANE Select | NP_004985.2:n.521-2A>T |