HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152585G>T , CM000677.2:g.80152585G>T | GRCh38 |
NC_000015.9:g.80444927G>T , CM000677.1:g.80444927G>T | GRCh37 |
NC_000015.8:g.78231982G>T | NCBI36 |
NG_012833.1:g.4587G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558022.5:c.-30+40G>T | ENSP00000453152.1:n.-30+40G>T |