HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169572220C>G , CM000663.2:g.169572220C>G | GRCh38 |
NC_000001.10:g.169541458C>G , CM000663.1:g.169541458C>G | GRCh37 |
NC_000001.9:g.167808082C>G | NCBI36 |
NG_011806.1:g.19312G>C , LRG_553:g.19312G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.373+1G>C MANE Select | ENSP00000356771.3:n.373+1G>C | |
ENST00000367796.3:c.373+1G>C | ENSP00000356770.3:n.373+1G>C | |
ENST00000367797.7:c.373+1G>C | ENSP00000356771.3:n.373+1G>C | |
NM_000130.4:c.373+1G>C , LRG_553t1:c.373+1G>C | NP_000121.2:n.373+1G>C | |
XM_017000660.2:c.-39+1G>C | XP_016856149.1:n.-39+1G>C | |
NM_000130.5:c.373+1G>C MANE Select | NP_000121.2:n.373+1G>C |