HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8086041C>G , CM000679.2:g.8086041C>G | GRCh38 |
NC_000017.10:g.7989359C>G , CM000679.1:g.7989359C>G | GRCh37 |
NC_000017.9:g.7930084C>G | NCBI36 |
NG_007099.1:g.6663G>C | |
NG_007099.2:g.6676G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.327G>C MANE Select | ENSP00000497784.1:p.Glu109Asp | |
ENST00000319144.4:c.327G>C | ENSP00000315167.4:p.Glu109Asp | |
NM_001139.2:c.327G>C | NP_001130.1:p.Glu109Asp | |
NM_001139.3:c.327G>C MANE Select | NP_001130.1:p.Glu109Asp |