HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278276C>T , CM000678.2:g.2278276C>T | GRCh38 |
NC_000016.9:g.2328277C>T , CM000678.1:g.2328277C>T | GRCh37 |
NC_000016.8:g.2268278C>T | NCBI36 |
NG_011790.1:g.67471G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4718+12G>A MANE Select | ENSP00000301732.5:n.4718+12G>A | |
ENST00000301732.9:c.4718+12G>A | ENSP00000301732.5:n.4718+12G>A | |
ENST00000382381.7:c.4544+12G>A | ENSP00000371818.3:n.4544+12G>A | |
NM_001089.2:c.4718+12G>A | NP_001080.2:n.4718+12G>A | |
NM_001089.3:c.4718+12G>A MANE Select | NP_001080.2:n.4718+12G>A |