HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2860001A>G , CM000686.2:g.2860001A>G | GRCh38 |
NC_000024.9:g.2728042A>G , CM000686.1:g.2728042A>G | GRCh37 |
NC_000024.8:g.2788042A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000250784.13:c.533-5087A>G MANE Select | ENSP00000250784.7:n.533-5087A>G | |
ENST00000250784.12:c.533-5087A>G | ENSP00000250784.7:n.533-5087A>G | |
ENST00000430575.1:c.560-5087A>G | ENSP00000415317.1:n.560-5087A>G | |
ENST00000477725.1:n.677-5087A>G | ||
ENST00000515575.1:n.42+5230A>G | ||
NM_001008.3:c.533-5087A>G | NP_000999.1:n.533-5087A>G | |
NM_001008.4:c.533-5087A>G MANE Select | NP_000999.1:n.533-5087A>G |