HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912294T>C , CM000674.2:g.4912294T>C | GRCh38 |
NC_000012.11:g.5021460T>C , CM000674.1:g.5021460T>C | GRCh37 |
NC_000012.10:g.4891721T>C | NCBI36 |
NG_011815.1:g.7388T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.916T>C MANE Select | ENSP00000371985.3:p.Ser306Pro | |
ENST00000543874.3:n.105+1822T>C | ||
ENST00000639306.1:c.754T>C | ENSP00000492506.1:p.Ser252Pro | |
ENST00000639680.1:c.76+28T>C | ||
ENST00000382545.3:c.916T>C | ENSP00000371985.3:p.Ser306Pro | |
ENST00000541095.1:n.105+1822T>C | ||
ENST00000543874.2:n.96+1822T>C | ||
NM_000217.2:c.916T>C | NP_000208.2:p.Ser306Pro | |
NM_000217.3:c.916T>C MANE Select | NP_000208.2:p.Ser306Pro |