HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74749870G>A , CM000677.2:g.74749870G>A | GRCh38 |
NC_000015.9:g.75042211G>A , CM000677.1:g.75042211G>A | GRCh37 |
NC_000015.8:g.72829264G>A | NCBI36 |
NG_008431.1:g.32329G>A | |
NG_008431.2:g.32329G>A | |
NG_061543.1:g.6026G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.132G>A MANE Select | ENSP00000342007.4:p.Glu44= | |
ENST00000343932.4:c.132G>A | ENSP00000342007.4:p.Glu44= | |
NM_000761.4:c.132G>A | NP_000752.2:p.Glu44= | |
NM_000761.5:c.132G>A MANE Select | NP_000752.2:p.Glu44= |