HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55039732G>A , CM000663.2:g.55039732G>A | GRCh38 |
NC_000001.10:g.55505405G>A , CM000663.1:g.55505405G>A | GRCh37 |
NC_000001.9:g.55277993G>A | NCBI36 |
NG_009061.1:g.5186G>A , LRG_275:g.5186G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000673913.2:c.-106G>A | ENSP00000501161.2:n.-106G>A | |
ENST00000710286.1:c.252G>A | ENSP00000518176.1:p.Gln84= | |
ENST00000673726.1:c.-106G>A | ENSP00000501004.1:n.-106G>A | |
ENST00000302118.5:c.-106G>A MANE Select | ENSP00000303208.5:n.-106G>A | |
NM_174936.3:c.-106G>A , LRG_275t1:c.-106G>A | NP_777596.2:n.-106G>A | |
NM_174936.4:c.-106G>A MANE Select | NP_777596.2:n.-106G>A |