HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84425491T>G , CM000664.2:g.84425491T>G | GRCh38 |
NC_000002.11:g.84652615T>G , CM000664.1:g.84652615T>G | GRCh37 |
NC_000002.10:g.84506126T>G | NCBI36 |
NG_016755.1:g.38972A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393868.7:c.938A>C MANE Select | ENSP00000377446.2:p.Glu313Ala | |
ENST00000651342.1:c.*378A>C | ENSP00000498471.1:n.*378A>C | |
ENST00000393868.6:c.938A>C | ENSP00000377446.2:p.Glu313Ala | |
ENST00000484365.1:n.1446A>C | ||
ENST00000487809.1:n.685A>C | ||
ENST00000491123.5:n.784A>C | ||
NM_003849.3:c.938A>C | NP_003840.2:p.Glu313Ala | |
NM_003849.4:c.938A>C MANE Select | NP_003840.2:p.Glu313Ala |