HGVS | Genome Assembly |
---|---|
NC_000012.12:g.8138610C>T , CM000674.2:g.8138610C>T | GRCh38 |
NC_000012.11:g.8291206C>T , CM000674.1:g.8291206C>T | GRCh37 |
NC_000012.10:g.8182473C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000402465.8:c.114+357C>T | ||
ENST00000402465.7:c.-151+357C>T | ENSP00000384896.3:n.-151+357C>T |