HGVS | Genome Assembly |
---|---|
NC_000015.10:g.42958011A>T , CM000677.2:g.42958011A>T | GRCh38 |
NC_000015.9:g.43250209A>T , CM000677.1:g.43250209A>T | GRCh37 |
NC_000015.8:g.41037501A>T | NCBI36 |
NG_012182.1:g.153078T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.4835+2T>A MANE Select | ENSP00000290650.4:n.4835+2T>A | |
ENST00000290650.8:c.4835+2T>A | ENSP00000290650.4:n.4835+2T>A | |
NM_174916.2:c.4835+2T>A | NP_777576.1:n.4835+2T>A | |
NM_174916.3:c.4835+2T>A MANE Select | NP_777576.1:n.4835+2T>A |