HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89284812A>T , CM000673.2:g.89284812A>T | GRCh38 |
NC_000011.9:g.89017980A>T , CM000673.1:g.89017980A>T | GRCh37 |
NC_000011.8:g.88657628A>T | NCBI36 |
NG_008748.1:g.111941A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263321.6:c.1224A>T MANE Select | ENSP00000263321.4:p.Gln408His | |
ENST00000263321.5:c.1224A>T | ENSP00000263321.4:p.Gln408His | |
ENST00000528243.1:n.222A>T | ||
NM_000372.4:c.1224A>T | NP_000363.1:p.Gln408His | |
XM_011542970.1:c.1224A>T | XP_011541272.1:p.Gln408His | |
XM_011542970.2:c.1224A>T | XP_011541272.1:p.Gln408His | |
XR_001748321.1:n.2456+1222T>A | ||
XR_001748322.1:n.2457+1222T>A | ||
NM_000372.5:c.1224A>T MANE Select | NP_000363.1:p.Gln408His |