HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8086149C= , CM000679.2:g.8086149C= | GRCh38 |
NC_000017.10:g.7989467C= , CM000679.1:g.7989467C= | GRCh37 |
NC_000017.9:g.7930192C= | NCBI36 |
NG_007099.1:g.6555G= | |
NG_007099.2:g.6568G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.219G= MANE Select | ENSP00000497784.1:p.Arg73= | |
ENST00000319144.4:c.219G= | ENSP00000315167.4:p.Arg73= | |
NM_001139.2:c.219G= | NP_001130.1:p.Arg73= | |
NM_001139.3:c.219G= MANE Select | NP_001130.1:p.Arg73= |