HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115488T>G , CM000681.2:g.10115488T>G | GRCh38 |
NC_000019.9:g.10226164T>G , CM000681.1:g.10226164T>G | GRCh37 |
NC_000019.8:g.10087164T>G | NCBI36 |
NG_047007.1:g.8968T>G | |
NG_051197.1:g.9437A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.938A>C MANE Select | ENSP00000253108.3:p.Glu313Ala | |
ENST00000253108.8:c.938A>C | ENSP00000253108.3:p.Glu313Ala | |
ENST00000590158.1:n.957A>C | ||
ENST00000593054.5:c.332A>C | ENSP00000467187.1:p.Glu111Ala | |
NM_003755.3:c.938A>C | NP_003746.2:p.Glu313Ala | |
NM_003755.4:c.938A>C | NP_003746.2:p.Glu313Ala | |
NM_003755.5:c.938A>C MANE Select | NP_003746.2:p.Glu313Ala |