HGVS | Genome Assembly |
---|---|
NC_000017.11:g.75758002G= , CM000679.2:g.75758002G= | GRCh38 |
NC_000017.10:g.73754083G= , CM000679.1:g.73754083G= | GRCh37 |
NC_000017.9:g.71265678G= | NCBI36 |
NG_007372.1:g.41568G= | |
NG_008079.1:g.12198C= | |
NG_008079.2:g.12198C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000592997.6:c.1143C= | ENSP00000464765.2:n.1143C= | |
ENST00000588479.6:c.*54C= MANE Select | ENSP00000465930.1:n.*54C= | |
ENST00000225614.6:c.*22+32C= | ENSP00000225614.1:n.*22+32C= | |
ENST00000586733.1:n.435C= | ||
ENST00000588479.5:c.*54C= | ENSP00000465930.1:n.*54C= | |
ENST00000589643.1:n.254+32C= | ||
ENST00000592997.5:c.609C= | ENSP00000464765.1:n.609C= | |
NM_000154.1:c.*54C= | NP_000145.1:n.*54C= | |
NM_000154.2:c.*54C= MANE Select | NP_000145.1:n.*54C= | |
NM_001381985.1:c.*22+32C= | NP_001368914.1:n.*22+32C= |