HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8076324T>C , CM000679.2:g.8076324T>C | GRCh38 |
NC_000017.10:g.7979642T>C , CM000679.1:g.7979642T>C | GRCh37 |
NC_000017.9:g.7920367T>C | NCBI36 |
NG_007099.1:g.16380A>G | |
NG_007099.2:g.16393A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647874.1:c.1383A>G MANE Select | ENSP00000497784.1:p.Glu461= | |
ENST00000649809.1:c.447A>G | ENSP00000496845.1:p.Glu149= | |
ENST00000319144.4:c.1383A>G | ENSP00000315167.4:p.Glu461= | |
ENST00000577351.5:n.330A>G | ||
ENST00000583276.5:n.767A>G | ||
ENST00000584116.1:n.639A>G | ||
NM_001139.2:c.1383A>G | NP_001130.1:p.Glu461= | |
NM_001139.3:c.1383A>G MANE Select | NP_001130.1:p.Glu461= |