HGVS | Genome Assembly |
---|---|
NC_000017.11:g.33979216G>T , CM000679.2:g.33979216G>T | GRCh38 |
NC_000017.10:g.32306235G>T , CM000679.1:g.32306235G>T | GRCh37 |
NC_000017.9:g.29330348G>T | NCBI36 |
NG_029763.1:g.182591C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359872.6:c.555+176762C>A | ENSP00000352934.6:n.555+176762C>A | |
NM_001094.4:c.555+176762C>A | NP_001085.2:n.555+176762C>A | |
XR_001752840.1:n.404+7929C>A | ||
NM_001094.5:c.555+176762C>A | NP_001085.2:n.555+176762C>A |