HGVS | Genome Assembly |
---|---|
NC_000024.10:g.7738691T>C , CM000686.2:g.7738691T>C | GRCh38 |
NC_000024.9:g.7606732T>C , CM000686.1:g.7606732T>C | GRCh37 |
NC_000024.8:g.7666732T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651261.1:n.299-25594A>G | ||
ENST00000455527.5:n.297-8851A>G |