HGVS | Genome Assembly |
---|---|
NC_000013.11:g.39329167T>G , CM000675.2:g.39329167T>G | GRCh38 |
NC_000013.10:g.39903304T>G , CM000675.1:g.39903304T>G | GRCh37 |
NC_000013.9:g.38801304T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648377.1:c.*82+14687A>C | ENSP00000496801.1:n.*82+14687A>C | |
XR_001749845.1:n.1449+7104A>C |