HGVS | Genome Assembly |
---|---|
NC_000017.11:g.33979245T>C , CM000679.2:g.33979245T>C | GRCh38 |
NC_000017.10:g.32306264T>C , CM000679.1:g.32306264T>C | GRCh37 |
NC_000017.9:g.29330377T>C | NCBI36 |
NG_029763.1:g.182562A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359872.6:c.555+176733A>G | ENSP00000352934.6:n.555+176733A>G | |
NM_001094.4:c.555+176733A>G | NP_001085.2:n.555+176733A>G | |
XR_001752840.1:n.404+7900A>G | ||
NM_001094.5:c.555+176733A>G | NP_001085.2:n.555+176733A>G |