HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269110A>G , CM000668.2:g.31269110A>G | GRCh38 |
NC_000006.11:g.31236887A>G , CM000668.1:g.31236887A>G | GRCh37 |
NC_000006.10:g.31344866A>G | NCBI36 |
NG_029422.2:g.8022T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*59T>C MANE Select | ENSP00000365402.5:n.*59T>C | |
ENST00000376228.9:c.*59T>C | ENSP00000365402.5:n.*59T>C | |
ENST00000376237.8:c.*747T>C | ENSP00000365412.4:n.*747T>C | |
ENST00000383329.7:c.*59T>C | ENSP00000372819.3:n.*59T>C | |
ENST00000466892.5:n.393T>C | ||
ENST00000470363.5:n.918T>C | ||
ENST00000487245.5:n.1519T>C | ||
NM_002117.5:c.*59T>C | NP_002108.4:n.*59T>C | |
NM_002117.6:c.*59T>C MANE Select | NP_002108.4:n.*59T>C |