HGVS | Genome Assembly |
---|---|
NC_000002.12:g.113117784C>G , CM000664.2:g.113117784C>G | GRCh38 |
NC_000002.11:g.113875361C>G , CM000664.1:g.113875361C>G | GRCh37 |
NC_000002.10:g.113591832C>G | NCBI36 |
NG_021240.1:g.4892C>G , LRG_188:g.4892C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409052.6:c.-272-2282C>G | ENSP00000387210.1:n.-272-2282C>G | |
ENST00000465812.6:n.775+119C>G | ||
ENST00000409052.5:c.-272-2282C>G | ENSP00000387210.1:n.-272-2282C>G | |
XM_011511121.1:c.-272-2282C>G | XP_011509423.1:n.-272-2282C>G |