HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133531207T>C , CM000672.2:g.133531207T>C | GRCh38 |
NC_000010.10:g.135344711T>C , CM000672.1:g.135344711T>C | GRCh37 |
NC_000010.9:g.135194701T>C | NCBI36 |
NG_008383.1:g.8845T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.338-378T>C MANE Select | ENSP00000252945.3:n.338-378T>C | |
ENST00000252945.7:c.338-378T>C | ENSP00000252945.3:n.338-378T>C | |
ENST00000418356.1:c.77-917T>C | ENSP00000397299.1:n.77-917T>C | |
ENST00000421586.5:c.77-378T>C | ENSP00000412754.1:n.77-378T>C | |
ENST00000463117.6:c.338-378T>C | ENSP00000440689.1:n.338-378T>C | |
ENST00000477500.5:n.299-378T>C | ||
ENST00000480558.1:n.563-378T>C | ||
ENST00000541080.5:c.77-378T>C | ||
NM_000773.3:c.338-378T>C | NP_000764.1:n.338-378T>C | |
NM_000773.4:c.338-378T>C MANE Select | NP_000764.1:n.338-378T>C |