HGVS | Genome Assembly |
---|---|
NC_000001.11:g.207454253G>T , CM000663.2:g.207454253G>T | GRCh38 |
NC_000001.10:g.207627598G>T , CM000663.1:g.207627598G>T | GRCh37 |
NC_000001.9:g.205694221G>T | NCBI36 |
NG_013006.1:g.4954G>T , LRG_348:g.4954G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699640.1:c.-385+1158G>T | ENSP00000514493.1:n.-385+1158G>T | |
ENST00000367057.7:c.-166G>T | ENSP00000356024.3:n.-166G>T | |
ENST00000367058.7:c.-166G>T | ENSP00000356025.3:n.-166G>T | |
ENST00000367059.3:c.-166G>T | ENSP00000356026.3:n.-166G>T |