HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152617G>T , CM000677.2:g.80152617G>T | GRCh38 |
NC_000015.9:g.80444959G>T , CM000677.1:g.80444959G>T | GRCh37 |
NC_000015.8:g.78232014G>T | NCBI36 |
NG_012833.1:g.4619G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558022.5:c.-30+72G>T | ENSP00000453152.1:n.-30+72G>T |