HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8076322C= , CM000679.2:g.8076322C= | GRCh38 |
NC_000017.10:g.7979640C= , CM000679.1:g.7979640C= | GRCh37 |
NC_000017.9:g.7920365C= | NCBI36 |
NG_007099.1:g.16382G= | |
NG_007099.2:g.16395G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1385G= MANE Select | ENSP00000497784.1:p.Gly462= | |
ENST00000649809.1:c.449G= | ENSP00000496845.1:p.Gly150= | |
ENST00000319144.4:c.1385G= | ENSP00000315167.4:p.Gly462= | |
ENST00000577351.5:n.332G= | ||
ENST00000583276.5:n.769G= | ||
ENST00000584116.1:n.641G= | ||
NM_001139.2:c.1385G= | NP_001130.1:p.Gly462= | |
NM_001139.3:c.1385G= MANE Select | NP_001130.1:p.Gly462= |