HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47331785C>A , CM000673.2:g.47331785C>A | GRCh38 |
NC_000011.9:g.47353336C>A , CM000673.1:g.47353336C>A | GRCh37 |
NC_000011.8:g.47309912C>A | NCBI36 |
NG_007667.1:g.25918G>T , LRG_386:g.25918G>T | |
NG_029462.1:g.67410C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.*26+60G>T MANE Select | ENSP00000442795.1:n.*26+60G>T | |
ENST00000256993.8:c.*26+60G>T | ENSP00000256993.5:n.*26+60G>T | |
ENST00000399249.6:c.*26+60G>T | ENSP00000382193.2:n.*26+60G>T | |
ENST00000545968.5:c.*26+60G>T | ENSP00000442795.1:n.*26+60G>T | |
NM_000256.3:c.*26+60G>T , LRG_386t1:c.*26+60G>T MANE Select | NP_000247.2:n.*26+60G>T | |
XM_011520117.1:c.*26+60G>T | XP_011518419.1:n.*26+60G>T | |
XM_011520118.1:c.*26+60G>T | XP_011518420.1:n.*26+60G>T |