HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270081T= , CM000668.2:g.31270081T= | GRCh38 |
NC_000006.11:g.31237858T= , CM000668.1:g.31237858T= | GRCh37 |
NC_000006.10:g.31345837T= | NCBI36 |
NG_029422.2:g.7051A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.900A= MANE Select | ENSP00000365402.5:p.Pro300= | |
ENST00000376228.9:c.900A= | ENSP00000365402.5:p.Pro300= | |
ENST00000376237.8:c.*487A= | ENSP00000365412.4:n.*487A= | |
ENST00000383329.7:c.900A= | ENSP00000372819.3:p.Pro300= | |
ENST00000470363.5:n.218A= | ||
ENST00000487245.5:n.1259A= | ||
NM_002117.5:c.900A= | NP_002108.4:p.Pro300= | |
NM_002117.6:c.900A= MANE Select | NP_002108.4:p.Pro300= |