HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948957C>A , CM000679.2:g.16948957C>A | GRCh38 |
NC_000017.10:g.16852271C>A , CM000679.1:g.16852271C>A | GRCh37 |
NC_000017.9:g.16792996C>A | NCBI36 |
NG_007281.1:g.28132G>T , LRG_120:g.28132G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.226G>T MANE Select | ENSP00000261652.2:p.Gly76Cys | |
ENST00000261652.6:c.226G>T | ENSP00000261652.2:p.Gly76Cys | |
ENST00000579315.5:c.226G>T | ENSP00000464069.1:p.Gly76Cys | |
ENST00000581616.2:n.229G>T | ||
ENST00000582931.5:n.130G>T | ||
ENST00000583789.1:c.88G>T | ENSP00000462952.1:p.Gly30Cys | |
ENST00000584950.5:c.88G>T | ENSP00000463582.1:p.Gly30Cys | |
NM_012452.2:c.226G>T , LRG_120t1:c.226G>T | NP_036584.1:p.Gly76Cys | |
NM_012452.3:c.226G>T MANE Select | NP_036584.1:p.Gly76Cys |