HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19466454A>G , CM000686.2:g.19466454A>G | GRCh38 |
NC_000024.9:g.21628340A>G , CM000686.1:g.21628340A>G | GRCh37 |
NC_000024.8:g.20087728A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650676.1:n.1660+2T>C | ||
ENST00000400605.5:n.1654+2T>C | ||
ENST00000441139.5:n.1671+2T>C | ||
ENST00000513194.1:n.4569T>C | ||
NR_002923.2:n.1671+2T>C | ||
NR_033732.1:n.1671+2T>C |