HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3256641G>A , CM000666.2:g.3256641G>A | GRCh38 |
NC_000004.11:g.3258368G>A , CM000666.1:g.3258368G>A | GRCh37 |
NC_000004.10:g.3228166G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000505599.5:c.729+784G>A | ENSP00000425405.1:n.729+784G>A | |
ENST00000510580.1:c.765+748G>A | ENSP00000420966.1:n.765+748G>A | |
XM_011513464.1:c.729+784G>A | XP_011511766.1:n.729+784G>A | |
XR_924950.1:n.753+784G>A |