HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133539051T>G , CM000672.2:g.133539051T>G | GRCh38 |
NC_000010.10:g.135352555T>G , CM000672.1:g.135352555T>G | GRCh37 |
NC_000010.9:g.135202545T>G | NCBI36 |
NG_008383.1:g.16689T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.*87T>G MANE Select | ENSP00000252945.3:n.*87T>G | |
ENST00000252945.7:c.*87T>G | ENSP00000252945.3:n.*87T>G | |
ENST00000368520.1:n.1358+1159T>G | ||
ENST00000463117.6:c.*87T>G | ENSP00000440689.1:n.*87T>G | |
ENST00000469258.1:n.665T>G | ||
NM_000773.3:c.*87T>G | NP_000764.1:n.*87T>G | |
NM_000773.4:c.*87T>G MANE Select | NP_000764.1:n.*87T>G |