HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133539091T>C , CM000672.2:g.133539091T>C | GRCh38 |
NC_000010.10:g.135352595T>C , CM000672.1:g.135352595T>C | GRCh37 |
NC_000010.9:g.135202585T>C | NCBI36 |
NG_008383.1:g.16729T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.*127T>C MANE Select | ENSP00000252945.3:n.*127T>C | |
ENST00000252945.7:c.*127T>C | ENSP00000252945.3:n.*127T>C | |
ENST00000368520.1:n.1358+1199T>C | ||
ENST00000463117.6:c.*127T>C | ENSP00000440689.1:n.*127T>C | |
ENST00000469258.1:n.705T>C | ||
NM_000773.3:c.*127T>C | NP_000764.1:n.*127T>C | |
NM_000773.4:c.*127T>C MANE Select | NP_000764.1:n.*127T>C |