HGVS | Genome Assembly |
---|---|
NC_000010.11:g.96375748A>T , CM000672.2:g.96375748A>T | GRCh38 |
NC_000010.10:g.98135505A>T , CM000672.1:g.98135505A>T | GRCh37 |
NC_000010.9:g.98125495A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357947.4:c.2448+944T>A MANE Select | ENSP00000350630.3:n.2448+944T>A | |
ENST00000357947.3:c.2448+944T>A | ENSP00000350630.3:n.2448+944T>A | |
NM_012465.3:c.2448+944T>A | NP_036597.1:n.2448+944T>A | |
NM_012465.4:c.2448+944T>A MANE Select | NP_036597.1:n.2448+944T>A |