HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169552282C>G , CM000663.2:g.169552282C>G | GRCh38 |
NC_000001.10:g.169521520C>G , CM000663.1:g.169521520C>G | GRCh37 |
NC_000001.9:g.167788144C>G | NCBI36 |
NG_011806.1:g.39250G>C , LRG_553:g.39250G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1296+275G>C MANE Select | ENSP00000356771.3:n.1296+275G>C | |
ENST00000367796.3:c.1296+275G>C | ENSP00000356770.3:n.1296+275G>C | |
ENST00000367797.7:c.1296+275G>C | ENSP00000356771.3:n.1296+275G>C | |
NM_000130.4:c.1296+275G>C , LRG_553t1:c.1296+275G>C | NP_000121.2:n.1296+275G>C | |
XM_017000660.2:c.885+275G>C | XP_016856149.1:n.885+275G>C | |
NM_000130.5:c.1296+275G>C MANE Select | NP_000121.2:n.1296+275G>C |