HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538773C= , CM000672.2:g.133538773C= | GRCh38 |
NC_000010.10:g.135352277C= , CM000672.1:g.135352277C= | GRCh37 |
NC_000010.9:g.135202267C= | NCBI36 |
NG_008383.1:g.16411C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.1298-7C= MANE Select | ENSP00000252945.3:n.1298-7C= | |
ENST00000252945.7:c.1298-7C= | ENSP00000252945.3:n.1298-7C= | |
ENST00000368520.1:n.1358+881C= | ||
ENST00000418356.1:c.887-7C= | ENSP00000397299.1:n.887-7C= | |
ENST00000421586.5:c.1037-7C= | ENSP00000412754.1:n.1037-7C= | |
ENST00000463117.6:c.1298-7C= | ENSP00000440689.1:n.1298-7C= | |
ENST00000469258.1:n.394-7C= | ||
ENST00000541080.5:c.714-7C= | ||
NM_000773.3:c.1298-7C= | NP_000764.1:n.1298-7C= | |
NM_000773.4:c.1298-7C= MANE Select | NP_000764.1:n.1298-7C= |