HGVS | Genome Assembly |
---|---|
NC_000009.12:g.115381567A>G , CM000671.2:g.115381567A>G | GRCh38 |
NC_000009.11:g.118143846A>G , CM000671.1:g.118143846A>G | GRCh37 |
NC_000009.10:g.117183667A>G | NCBI36 |
NG_027530.1:g.244750A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374016.5:c.13+4852A>G | ENSP00000363128.1:n.13+4852A>G | |
NM_017418.2:c.13+4852A>G | NP_059114.1:n.13+4852A>G | |
XM_011518753.1:c.13+4852A>G | XP_011517055.1:n.13+4852A>G | |
NR_163556.1:n.535+4852A>G |