HGVS | Genome Assembly |
---|---|
NC_000021.9:g.10510446A>G , CM000683.2:g.10510446A>G | GRCh38 |
NC_000021.8:g.11002011T>C , CM000683.1:g.11002011T>C | GRCh37 |
NC_000021.7:g.10023882T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000496773.1:n.2356-3676A>G | ||
XR_945584.1:n.89-326A>G | ||
XM_017028520.1:c.640-3676A>G | XP_016884009.1:n.640-3676A>G | |
XR_001754956.1:n.1651-326A>G | ||
NR_169269.1:n.2115-3676A>G | ||
NR_169270.1:n.1836-3676A>G |