HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3256701G>A , CM000666.2:g.3256701G>A | GRCh38 |
NC_000004.11:g.3258428G>A , CM000666.1:g.3258428G>A | GRCh37 |
NC_000004.10:g.3228226G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000505599.5:c.729+844G>A | ENSP00000425405.1:n.729+844G>A | |
ENST00000510580.1:c.765+808G>A | ENSP00000420966.1:n.765+808G>A | |
XM_011513464.1:c.729+844G>A | XP_011511766.1:n.729+844G>A | |
XR_924950.1:n.753+844G>A |