HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133539019G>T , CM000672.2:g.133539019G>T | GRCh38 |
NC_000010.10:g.135352523G>T , CM000672.1:g.135352523G>T | GRCh37 |
NC_000010.9:g.135202513G>T | NCBI36 |
NG_008383.1:g.16657G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252945.8:c.*55G>T MANE Select | ENSP00000252945.3:n.*55G>T | |
ENST00000252945.7:c.*55G>T | ENSP00000252945.3:n.*55G>T | |
ENST00000368520.1:n.1358+1127G>T | ||
ENST00000463117.6:c.*55G>T | ENSP00000440689.1:n.*55G>T | |
ENST00000469258.1:n.633G>T | ||
NM_000773.3:c.*55G>T | NP_000764.1:n.*55G>T | |
NM_000773.4:c.*55G>T MANE Select | NP_000764.1:n.*55G>T |