HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631575T>G , CM000679.2:g.4631575T>G | GRCh38 |
NC_000017.10:g.4534870T>G , CM000679.1:g.4534870T>G | GRCh37 |
NC_000017.9:g.4481619T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.*25A>C MANE Select | ENSP00000293761.3:n.*25A>C | |
ENST00000570836.6:c.*25A>C | ENSP00000458832.1:n.*25A>C | |
ENST00000293761.7:c.*25A>C | ENSP00000293761.3:n.*25A>C | |
ENST00000570836.5:c.*25A>C | ENSP00000458832.1:n.*25A>C | |
ENST00000574640.1:c.*25A>C | ENSP00000460483.1:n.*25A>C | |
NM_001140.3:c.*25A>C | NP_001131.3:n.*25A>C | |
NM_001140.4:c.*25A>C | NP_001131.3:n.*25A>C | |
NM_001140.5:c.*25A>C MANE Select | NP_001131.3:n.*25A>C |