HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322894G>C , CM000677.2:g.73322894G>C | GRCh38 |
NC_000015.9:g.73615235G>C , CM000677.1:g.73615235G>C | GRCh37 |
NC_000015.8:g.71402288G>C | NCBI36 |
NG_009063.1:g.51371C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3199C>G MANE Select | ENSP00000261917.3:p.Gln1067Glu | |
ENST00000261917.3:c.3199C>G | ENSP00000261917.3:p.Gln1067Glu | |
NM_005477.2:c.3199C>G | NP_005468.1:p.Gln1067Glu | |
XM_011521148.1:c.1981C>G | XP_011519450.1:p.Gln661Glu | |
XM_011521148.2:c.1981C>G | XP_011519450.1:p.Gln661Glu | |
NM_005477.3:c.3199C>G MANE Select | NP_005468.1:p.Gln1067Glu |