HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112166831C>A , CM000673.2:g.112166831C>A | GRCh38 |
NC_000011.9:g.112037554C>A , CM000673.1:g.112037554C>A | GRCh37 |
NC_000011.8:g.111542764C>A | NCBI36 |
NG_028143.1:g.2287G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000525987.5:n.320-3588C>A | ||
ENST00000531744.5:c.315-3588C>A | ENSP00000456957.1:n.315-3588C>A | |
ENST00000532699.1:c.315-3588C>A | ENSP00000456434.1:n.315-3588C>A |