HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948955G>C , CM000679.2:g.16948955G>C | GRCh38 |
NC_000017.10:g.16852269G>C , CM000679.1:g.16852269G>C | GRCh37 |
NC_000017.9:g.16792994G>C | NCBI36 |
NG_007281.1:g.28134C>G , LRG_120:g.28134C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.228C>G MANE Select | ENSP00000261652.2:p.Gly76= | |
ENST00000261652.6:c.228C>G | ENSP00000261652.2:p.Gly76= | |
ENST00000579315.5:c.228C>G | ENSP00000464069.1:p.Gly76= | |
ENST00000581616.2:n.231C>G | ||
ENST00000582931.5:n.132C>G | ||
ENST00000583789.1:c.90C>G | ENSP00000462952.1:p.Gly30= | |
ENST00000584950.5:c.90C>G | ENSP00000463582.1:p.Gly30= | |
NM_012452.2:c.228C>G , LRG_120t1:c.228C>G | NP_036584.1:p.Gly76= | |
NM_012452.3:c.228C>G MANE Select | NP_036584.1:p.Gly76= |