HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269221C>T , CM000668.2:g.31269221C>T | GRCh38 |
NC_000006.11:g.31236998C>T , CM000668.1:g.31236998C>T | GRCh37 |
NC_000006.10:g.31344977C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1097-48G>A MANE Select | ENSP00000365402.5:n.1097-48G>A | |
ENST00000376228.9:c.1097-48G>A | ENSP00000365402.5:n.1097-48G>A | |
ENST00000376237.8:c.*684-48G>A | ENSP00000365412.4:n.*684-48G>A | |
ENST00000383329.7:c.1115-48G>A | ENSP00000372819.3:n.1115-48G>A | |
ENST00000466892.5:n.330-48G>A | ||
ENST00000470363.5:n.855-48G>A | ||
ENST00000487245.5:n.1456-48G>A | ||
NM_002117.5:c.1097-48G>A | NP_002108.4:n.1097-48G>A | |
NM_002117.6:c.1097-48G>A MANE Select | NP_002108.4:n.1097-48G>A |