HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3256615A>G , CM000666.2:g.3256615A>G | GRCh38 |
NC_000004.11:g.3258342A>G , CM000666.1:g.3258342A>G | GRCh37 |
NC_000004.10:g.3228140A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000505599.5:c.729+758A>G | ENSP00000425405.1:n.729+758A>G | |
ENST00000510580.1:c.765+722A>G | ENSP00000420966.1:n.765+722A>G | |
NM_001042690.1:c.*650A>G | NP_001036155.1:n.*650A>G | |
XM_011513464.1:c.729+758A>G | XP_011511766.1:n.729+758A>G | |
XR_924950.1:n.753+758A>G |