HGVS | Genome Assembly |
---|---|
NC_000015.10:g.65077532C>G , CM000677.2:g.65077532C>G | GRCh38 |
NC_000015.9:g.65369870C>G , CM000677.1:g.65369870C>G | GRCh37 |
NC_000015.8:g.63156923C>G | NCBI36 |
NG_021411.1:g.5717C>G , LRG_682:g.5717C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432196.5:c.717C>G MANE Select | ENSP00000388723.2:p.His239Gln | |
ENST00000432196.3:c.717C>G | ENSP00000388723.2:p.His239Gln | |
NM_001101362.2:c.717C>G , LRG_682t1:c.717C>G | NP_001094832.1:p.His239Gln | |
NM_001101362.3:c.717C>G MANE Select | NP_001094832.1:p.His239Gln |