HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8086128G>C , CM000679.2:g.8086128G>C | GRCh38 |
NC_000017.10:g.7989446G>C , CM000679.1:g.7989446G>C | GRCh37 |
NC_000017.9:g.7930171G>C | NCBI36 |
NG_007099.1:g.6576C>G | |
NG_007099.2:g.6589C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.240C>G MANE Select | ENSP00000497784.1:p.Asp80Glu | |
ENST00000319144.4:c.240C>G | ENSP00000315167.4:p.Asp80Glu | |
NM_001139.2:c.240C>G | NP_001130.1:p.Asp80Glu | |
NM_001139.3:c.240C>G MANE Select | NP_001130.1:p.Asp80Glu |