HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12352183T>C , CM000686.2:g.12352183T>C | GRCh38 |
NC_000024.9:g.14472914T>C , CM000686.1:g.14472914T>C | GRCh37 |
NC_000024.8:g.12982922T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651802.1:n.450+54201A>G | ||
ENST00000651835.1:n.319+54613A>G |