HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985926C>G , CM000678.2:g.1985926C>G | GRCh38 |
NC_000016.9:g.2035927C>G , CM000678.1:g.2035927C>G | GRCh37 |
NC_000016.8:g.1975928C>G | NCBI36 |
NG_016288.1:g.6778C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.291C>G | ENSP00000455885.1:p.His97Gln | |
ENST00000248114.7:c.516C>G MANE Select | ENSP00000248114.6:p.His172Gln | |
ENST00000248114.6:c.516C>G | ENSP00000248114.6:p.His172Gln | |
ENST00000565658.1:n.673C>G | ||
ENST00000567719.1:c.291C>G | ENSP00000455885.1:p.His97Gln | |
ENST00000569451.1:c.319C>G | ENSP00000456432.1:p.Pro107Ala | |
NM_005262.2:c.516C>G | NP_005253.3:p.His172Gln | |
NM_005262.3:c.516C>G MANE Select | NP_005253.3:p.His172Gln |