HGVS | Genome Assembly |
---|---|
NC_000013.11:g.39329143A>G , CM000675.2:g.39329143A>G | GRCh38 |
NC_000013.10:g.39903280A>G , CM000675.1:g.39903280A>G | GRCh37 |
NC_000013.9:g.38801280A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648377.1:c.*82+14711T>C | ENSP00000496801.1:n.*82+14711T>C | |
XR_001749845.1:n.1449+7128T>C |