HGVS | Genome Assembly |
---|---|
NC_000001.11:g.119750745C>A , CM000663.2:g.119750745C>A | GRCh38 |
NC_000001.10:g.120293368C>A , CM000663.1:g.120293368C>A | GRCh37 |
NC_000001.9:g.120094891C>A | NCBI36 |
NG_013348.1:g.23188G>T , LRG_447:g.23188G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369406.8:c.*5+52G>T MANE Select | ENSP00000358414.3:n.*5+52G>T | |
ENST00000369406.7:c.*5+52G>T | ENSP00000358414.3:n.*5+52G>T | |
ENST00000544913.2:c.*5+52G>T | ENSP00000439495.2:n.*5+52G>T | |
NM_001166107.1:c.*5+52G>T , LRG_447t2:c.*5+52G>T | NP_001159579.1:n.*5+52G>T | |
NM_005518.3:c.*5+52G>T , LRG_447t1:c.*5+52G>T | NP_005509.1:n.*5+52G>T | |
XM_011541313.1:c.*5+52G>T | XP_011539615.1:n.*5+52G>T | |
XM_011541313.2:c.*5+52G>T | XP_011539615.1:n.*5+52G>T | |
NM_005518.4:c.*5+52G>T MANE Select | NP_005509.1:n.*5+52G>T |