HGVS | Genome Assembly |
---|---|
NC_000019.10:g.1401349T>C , CM000681.2:g.1401349T>C | GRCh38 |
NC_000019.9:g.1401348T>C , CM000681.1:g.1401348T>C | GRCh37 |
NC_000019.8:g.1352348T>C | NCBI36 |
NG_009785.1:g.5205A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252288.8:c.128A>G MANE Select | ENSP00000252288.1:p.Glu43Gly | |
ENST00000447102.8:c.128A>G | ENSP00000403536.2:p.Glu43Gly | |
ENST00000640762.1:c.112+16A>G | ENSP00000492031.1:n.112+16A>G | |
ENST00000252288.6:c.128A>G | ENSP00000252288.1:p.Glu43Gly | |
ENST00000447102.7:c.128A>G | ENSP00000403536.2:p.Glu43Gly | |
NM_000156.5:c.128A>G | NP_000147.1:p.Glu43Gly | |
NM_138924.2:c.128A>G | NP_620279.1:p.Glu43Gly | |
NM_000156.6:c.128A>G MANE Select | NP_000147.1:p.Glu43Gly | |
NM_138924.3:c.128A>G | NP_620279.1:p.Glu43Gly |