HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538796T= , CM000672.2:g.133538796T= | GRCh38 |
NC_000010.10:g.135352300T= , CM000672.1:g.135352300T= | GRCh37 |
NC_000010.9:g.135202290T= | NCBI36 |
NG_008383.1:g.16434T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.1314T= MANE Select | ENSP00000252945.3:p.Ala438= | |
ENST00000252945.7:c.1314T= | ENSP00000252945.3:p.Ala438= | |
ENST00000368520.1:n.1358+904T= | ||
ENST00000418356.1:c.903T= | ENSP00000397299.1:p.Ala301= | |
ENST00000421586.5:c.1053T= | ENSP00000412754.1:p.Ala351= | |
ENST00000463117.6:c.1314T= | ENSP00000440689.1:p.Ala438= | |
ENST00000469258.1:n.410T= | ||
ENST00000541080.5:c.730T= | ||
NM_000773.3:c.1314T= | NP_000764.1:p.Ala438= | |
NM_000773.4:c.1314T= MANE Select | NP_000764.1:p.Ala438= |