HGVS | Genome Assembly |
---|---|
NC_000001.11:g.119750827C>A , CM000663.2:g.119750827C>A | GRCh38 |
NC_000001.10:g.120293450C>A , CM000663.1:g.120293450C>A | GRCh37 |
NC_000001.9:g.120094973C>A | NCBI36 |
NG_013348.1:g.23106G>T , LRG_447:g.23106G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369406.8:c.1502G>T MANE Select | ENSP00000358414.3:p.Arg501Leu | |
ENST00000369406.7:c.1502G>T | ENSP00000358414.3:p.Arg501Leu | |
ENST00000544913.2:c.1376G>T | ENSP00000439495.2:p.Arg459Leu | |
NM_001166107.1:c.1376G>T , LRG_447t2:c.1376G>T | NP_001159579.1:p.Arg459Leu | |
NM_005518.3:c.1502G>T , LRG_447t1:c.1502G>T | NP_005509.1:p.Arg501Leu | |
XM_011541313.1:c.1337G>T | XP_011539615.1:p.Arg446Leu | |
XM_011541313.2:c.1337G>T | XP_011539615.1:p.Arg446Leu | |
NM_005518.4:c.1502G>T MANE Select | NP_005509.1:p.Arg501Leu |