HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19466515T>C , CM000686.2:g.19466515T>C | GRCh38 |
NC_000024.9:g.21628401T>C , CM000686.1:g.21628401T>C | GRCh37 |
NC_000024.8:g.20087789T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.1601A>G | ||
ENST00000400605.5:n.1595A>G | ||
ENST00000441139.5:n.1612A>G | ||
ENST00000513194.1:n.4508A>G | ||
NR_002923.2:n.1612A>G | ||
NR_033732.1:n.1612A>G |