HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133766324C>G , CM000665.2:g.133766324C>G | GRCh38 |
NC_000003.11:g.133485168C>G , CM000665.1:g.133485168C>G | GRCh37 |
NC_000003.10:g.134967858C>G | NCBI36 |
NG_013080.1:g.25192C>G | |
NG_013080.2:g.109327C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000402696.9:c.1377C>G MANE Select | ENSP00000385834.3:p.Thr459= | |
ENST00000402696.7:c.1377C>G | ENSP00000385834.3:p.Thr459= | |
ENST00000461695.1:c.47C>G | ||
NM_001063.3:c.1377C>G | NP_001054.1:p.Thr459= | |
XM_011513100.1:c.1377C>G | XP_011511402.1:p.Thr459= | |
NM_001354703.1:c.1245C>G | NP_001341632.1:p.Thr415= | |
NM_001354704.1:c.996C>G | NP_001341633.1:p.Thr332= | |
NM_001063.4:c.1377C>G MANE Select | NP_001054.2:p.Thr459= | |
NM_001354703.2:c.1245C>G | NP_001341632.2:p.Thr415= | |
NM_001354704.2:c.996C>G | NP_001341633.2:p.Thr332= |