HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631598G>A , CM000679.2:g.4631598G>A | GRCh38 |
NC_000017.10:g.4534893G>A , CM000679.1:g.4534893G>A | GRCh37 |
NC_000017.9:g.4481642G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.*2C>T MANE Select | ENSP00000293761.3:n.*2C>T | |
ENST00000570836.6:c.*2C>T | ENSP00000458832.1:n.*2C>T | |
ENST00000293761.7:c.*2C>T | ENSP00000293761.3:n.*2C>T | |
ENST00000570836.5:c.*2C>T | ENSP00000458832.1:n.*2C>T | |
ENST00000574640.1:c.*2C>T | ENSP00000460483.1:n.*2C>T | |
NM_001140.3:c.*2C>T | NP_001131.3:n.*2C>T | |
NM_001140.4:c.*2C>T | NP_001131.3:n.*2C>T | |
NM_001140.5:c.*2C>T MANE Select | NP_001131.3:n.*2C>T |