HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269143A>G , CM000668.2:g.31269143A>G | GRCh38 |
NC_000006.11:g.31236920A>G , CM000668.1:g.31236920A>G | GRCh37 |
NC_000006.10:g.31344899A>G | NCBI36 |
NG_029422.2:g.7989T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*26T>C MANE Select | ENSP00000365402.5:n.*26T>C | |
ENST00000376228.9:c.*26T>C | ENSP00000365402.5:n.*26T>C | |
ENST00000376237.8:c.*714T>C | ENSP00000365412.4:n.*714T>C | |
ENST00000383329.7:c.*26T>C | ENSP00000372819.3:n.*26T>C | |
ENST00000466892.5:n.360T>C | ||
ENST00000470363.5:n.885T>C | ||
ENST00000487245.5:n.1486T>C | ||
NM_002117.5:c.*26T>C | NP_002108.4:n.*26T>C | |
NM_002117.6:c.*26T>C MANE Select | NP_002108.4:n.*26T>C |