HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19466493T>G , CM000686.2:g.19466493T>G | GRCh38 |
NC_000024.9:g.21628379T>G , CM000686.1:g.21628379T>G | GRCh37 |
NC_000024.8:g.20087767T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.1623A>C | ||
ENST00000400605.5:n.1617A>C | ||
ENST00000441139.5:n.1634A>C | ||
ENST00000513194.1:n.4530A>C | ||
NR_002923.2:n.1634A>C | ||
NR_033732.1:n.1634A>C |