HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269497A>G , CM000668.2:g.31269497A>G | GRCh38 |
NC_000006.11:g.31237274A>G , CM000668.1:g.31237274A>G | GRCh37 |
NC_000006.10:g.31345253A>G | NCBI36 |
NG_029422.2:g.7635T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1044T>C MANE Select | ENSP00000365402.5:p.Ala348= | |
ENST00000376228.9:c.1044T>C | ENSP00000365402.5:p.Ala348= | |
ENST00000376237.8:c.*631T>C | ENSP00000365412.4:n.*631T>C | |
ENST00000383329.7:c.1062T>C | ENSP00000372819.3:p.Ala354= | |
ENST00000466892.5:n.170T>C | ||
ENST00000470363.5:n.802T>C | ||
ENST00000487245.5:n.1403T>C | ||
NM_002117.5:c.1044T>C | NP_002108.4:p.Ala348= | |
NM_002117.6:c.1044T>C MANE Select | NP_002108.4:p.Ala348= |