HGVS | Genome Assembly |
---|---|
NC_000008.11:g.47960359T>G , CM000670.2:g.47960359T>G | GRCh38 |
NC_000008.10:g.48872919T>G , CM000670.1:g.48872919T>G | GRCh37 |
NC_000008.9:g.49035472T>G | NCBI36 |
NG_023435.1:g.4825A>C , LRG_162:g.4825A>C | |
NG_032967.1:g.5157T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000518221.5:c.-15+39T>G | ENSP00000430329.1:n.-15+39T>G | |
NM_005914.3:c.-786T>G | NP_005905.2:n.-786T>G | |
NM_182746.2:c.-670T>G | NP_877423.1:n.-670T>G | |
XM_005251234.1:c.-1032T>G | XP_005251291.1:n.-1032T>G |