HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19482266T>G , CM000686.2:g.19482266T>G | GRCh38 |
NC_000024.9:g.21644152T>G , CM000686.1:g.21644152T>G | GRCh37 |
NC_000024.8:g.20103540T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.112-1972A>C | ||
ENST00000400605.5:n.106-1972A>C | ||
ENST00000441139.5:n.123-1972A>C | ||
ENST00000513194.1:n.2619A>C | ||
NR_002923.2:n.123-1972A>C | ||
NR_033732.1:n.123-1972A>C |