HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631917C>T , CM000679.2:g.4631917C>T | GRCh38 |
NC_000017.10:g.4535212C>T , CM000679.1:g.4535212C>T | GRCh37 |
NC_000017.9:g.4481961C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.1781G>A MANE Select | ENSP00000293761.3:p.Trp594Ter | |
ENST00000570836.6:c.1781G>A | ENSP00000458832.1:p.Trp594Ter | |
ENST00000293761.7:c.1781G>A | ENSP00000293761.3:p.Trp594Ter | |
ENST00000570836.5:c.1781G>A | ENSP00000458832.1:p.Trp594Ter | |
ENST00000574640.1:c.1664G>A | ENSP00000460483.1:p.Trp555Ter | |
NM_001140.3:c.1781G>A | NP_001131.3:p.Trp594Ter | |
NM_001140.4:c.1781G>A | NP_001131.3:p.Trp594Ter | |
NM_001140.5:c.1781G>A MANE Select | NP_001131.3:p.Trp594Ter |