HGVS | Genome Assembly |
---|---|
NC_000015.10:g.96332353G>A , CM000677.2:g.96332353G>A | GRCh38 |
NC_000015.9:g.96875582G>A , CM000677.1:g.96875582G>A | GRCh37 |
NC_000015.8:g.94676586G>A | NCBI36 |
NG_016753.1:g.11426G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000394166.8:c.248G>A MANE Select | ENSP00000377721.3:p.Gly83Glu | |
ENST00000394166.7:c.248G>A | ENSP00000377721.3:p.Gly83Glu | |
ENST00000421109.6:c.44-1723G>A | ENSP00000401674.2:n.44-1723G>A | |
NM_001145155.1:c.44-1723G>A | NP_001138627.1:n.44-1723G>A | |
NM_021005.3:c.248G>A | NP_066285.1:p.Gly83Glu | |
NM_021005.4:c.248G>A MANE Select | NP_066285.1:p.Gly83Glu | |
NM_001145155.2:c.44-1723G>A | NP_001138627.1:n.44-1723G>A |