HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948969G>C , CM000679.2:g.16948969G>C | GRCh38 |
NC_000017.10:g.16852283G>C , CM000679.1:g.16852283G>C | GRCh37 |
NC_000017.9:g.16793008G>C | NCBI36 |
NG_007281.1:g.28120C>G , LRG_120:g.28120C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.214C>G MANE Select | ENSP00000261652.2:p.Arg72Gly | |
ENST00000261652.6:c.214C>G | ENSP00000261652.2:p.Arg72Gly | |
ENST00000579315.5:c.214C>G | ENSP00000464069.1:p.Arg72Gly | |
ENST00000581616.2:n.217C>G | ||
ENST00000582931.5:n.118C>G | ||
ENST00000583789.1:c.76C>G | ENSP00000462952.1:p.Arg26Gly | |
ENST00000584950.5:c.76C>G | ENSP00000463582.1:p.Arg26Gly | |
NM_012452.2:c.214C>G , LRG_120t1:c.214C>G | NP_036584.1:p.Arg72Gly | |
NM_012452.3:c.214C>G MANE Select | NP_036584.1:p.Arg72Gly |