HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28845416C>A , CM000678.2:g.28845416C>A | GRCh38 |
NC_000016.9:g.28856737C>A , CM000678.1:g.28856737C>A | GRCh37 |
NC_000016.8:g.28764238C>A | NCBI36 |
NG_008964.1:g.5993G>T | |
NG_029706.2:g.3817C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000313511.8:c.312G>T MANE Select | ENSP00000322439.3:p.Glu104Asp | |
ENST00000313511.7:c.312G>T | ENSP00000322439.3:p.Glu104Asp | |
ENST00000565012.1:c.248-361G>T | ENSP00000455007.1:n.248-361G>T | |
NM_003321.4:c.312G>T | NP_003312.3:p.Glu104Asp | |
XM_011545928.1:c.312G>T | XP_011544230.1:p.Glu104Asp | |
NM_001365360.1:c.312G>T | NP_001352289.1:p.Glu104Asp | |
NM_003321.5:c.312G>T MANE Select | NP_003312.3:p.Glu104Asp | |
NM_001365360.2:c.312G>T | NP_001352289.1:p.Glu104Asp |