HGVS | Genome Assembly |
---|---|
NC_000013.11:g.39329215C>T , CM000675.2:g.39329215C>T | GRCh38 |
NC_000013.10:g.39903352C>T , CM000675.1:g.39903352C>T | GRCh37 |
NC_000013.9:g.38801352C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648377.1:c.*82+14639G>A | ENSP00000496801.1:n.*82+14639G>A | |
XR_001749845.1:n.1449+7056G>A |