HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55039567T>G , CM000663.2:g.55039567T>G | GRCh38 |
NC_000001.10:g.55505240T>G , CM000663.1:g.55505240T>G | GRCh37 |
NC_000001.9:g.55277828T>G | NCBI36 |
NG_009061.1:g.5021T>G , LRG_275:g.5021T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.-271T>G | ENSP00000501161.2:n.-271T>G | |
ENST00000710286.1:c.87T>G | ENSP00000518176.1:p.His29Gln | |
ENST00000673726.1:c.-271T>G | ENSP00000501004.1:n.-271T>G | |
ENST00000302118.5:c.-271T>G MANE Select | ENSP00000303208.5:n.-271T>G | |
NM_174936.3:c.-271T>G , LRG_275t1:c.-271T>G | NP_777596.2:n.-271T>G | |
NM_174936.4:c.-271T>G MANE Select | NP_777596.2:n.-271T>G |