HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919384C>G , CM000678.2:g.89919384C>G | GRCh38 |
NC_000016.9:g.89985792C>G , CM000678.1:g.89985792C>G | GRCh37 |
NC_000016.8:g.88513293C>G | NCBI36 |
NG_012026.1:g.6506C>G | |
NG_027810.1:g.2376C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.126C>G MANE Select | ENSP00000451605.1:p.Asp42Glu | |
ENST00000639847.1:c.126C>G | ENSP00000492011.1:p.Asp42Glu | |
ENST00000555147.1:c.126C>G | ENSP00000451605.1:p.Asp42Glu | |
ENST00000555427.1:c.126C>G | ENSP00000451760.1:p.Asp42Glu | |
ENST00000556922.1:c.126C>G | ENSP00000451560.1:p.Asp42Glu | |
NM_002386.3:c.126C>G | NP_002377.4:p.Asp42Glu | |
NM_002386.4:c.126C>G MANE Select | NP_002377.4:p.Asp42Glu |