HGVS | Genome Assembly |
---|---|
NC_000015.10:g.44711466T>C , CM000677.2:g.44711466T>C | GRCh38 |
NC_000015.9:g.45003664T>C , CM000677.1:g.45003664T>C | GRCh37 |
NC_000015.8:g.42790956T>C | NCBI36 |
NG_012920.1:g.4980T>C | |
NG_012920.2:g.4990T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695792.1:n.83+26T>C |