HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133766300G>A , CM000665.2:g.133766300G>A | GRCh38 |
NC_000003.11:g.133485144G>A , CM000665.1:g.133485144G>A | GRCh37 |
NC_000003.10:g.134967834G>A | NCBI36 |
NG_013080.1:g.25168G>A | |
NG_013080.2:g.109303G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000402696.9:c.1353G>A MANE Select | ENSP00000385834.3:p.Val451= | |
ENST00000402696.7:c.1353G>A | ENSP00000385834.3:p.Val451= | |
ENST00000461695.1:c.23G>A | ||
NM_001063.3:c.1353G>A | NP_001054.1:p.Val451= | |
XM_011513100.1:c.1353G>A | XP_011511402.1:p.Val451= | |
NM_001354703.1:c.1221G>A | NP_001341632.1:p.Val407= | |
NM_001354704.1:c.972G>A | NP_001341633.1:p.Val324= | |
NM_001063.4:c.1353G>A MANE Select | NP_001054.2:p.Val451= | |
NM_001354703.2:c.1221G>A | NP_001341632.2:p.Val407= | |
NM_001354704.2:c.972G>A | NP_001341633.2:p.Val324= |