HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2855714G>A , CM000686.2:g.2855714G>A | GRCh38 |
NC_000024.9:g.2723755G>A , CM000686.1:g.2723755G>A | GRCh37 |
NC_000024.8:g.2783755G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000250784.13:c.532+943G>A MANE Select | ENSP00000250784.7:n.532+943G>A | |
ENST00000250784.12:c.532+943G>A | ENSP00000250784.7:n.532+943G>A | |
ENST00000430575.1:c.559+943G>A | ENSP00000415317.1:n.559+943G>A | |
ENST00000477725.1:n.676+943G>A | ||
ENST00000515575.1:n.42+943G>A | ||
NM_001008.3:c.532+943G>A | NP_000999.1:n.532+943G>A | |
NM_001008.4:c.532+943G>A MANE Select | NP_000999.1:n.532+943G>A |