HGVS | Genome Assembly |
---|---|
NC_000008.11:g.47960234A>T , CM000670.2:g.47960234A>T | GRCh38 |
NC_000008.10:g.48872794A>T , CM000670.1:g.48872794A>T | GRCh37 |
NC_000008.9:g.49035347A>T | NCBI36 |
NG_023435.1:g.4950T>A , LRG_162:g.4950T>A | |
NG_032967.1:g.5032A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000518221.5:c.-101A>T | ENSP00000430329.1:n.-101A>T | |
NM_005914.3:c.-911A>T | NP_005905.2:n.-911A>T | |
NM_182746.2:c.-795A>T | NP_877423.1:n.-795A>T |