HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583246G>T , CM000679.2:g.41583246G>T | GRCh38 |
NC_000017.10:g.39739498G>T , CM000679.1:g.39739498G>T | GRCh37 |
NC_000017.9:g.36993024G>T | NCBI36 |
NG_008624.1:g.8650C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.1263C>A MANE Select | ENSP00000167586.6:p.Gly421= | |
ENST00000167586.6:c.1263C>A | ENSP00000167586.6:p.Gly421= | |
ENST00000441550.2:n.210C>A | ||
NM_000526.4:c.1263C>A | NP_000517.2:p.Gly421= | |
NM_000526.5:c.1263C>A MANE Select | NP_000517.3:p.Gly421= |