HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912302C= , CM000674.2:g.4912302C= | GRCh38 |
NC_000012.11:g.5021468C= , CM000674.1:g.5021468C= | GRCh37 |
NC_000012.10:g.4891729C= | NCBI36 |
NG_011815.1:g.7396C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.924C= MANE Select | ENSP00000371985.3:p.His308= | |
ENST00000543874.3:n.105+1830C= | ||
ENST00000639306.1:c.762C= | ENSP00000492506.1:p.His254= | |
ENST00000639680.1:c.76+36C= | ||
ENST00000382545.3:c.924C= | ENSP00000371985.3:p.His308= | |
ENST00000541095.1:n.105+1830C= | ||
ENST00000543874.2:n.96+1830C= | ||
NM_000217.2:c.924C= | NP_000208.2:p.His308= | |
NM_000217.3:c.924C= MANE Select | NP_000208.2:p.His308= |