HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912414T>C , CM000674.2:g.4912414T>C | GRCh38 |
NC_000012.11:g.5021580T>C , CM000674.1:g.5021580T>C | GRCh37 |
NC_000012.10:g.4891841T>C | NCBI36 |
NG_011815.1:g.7508T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1036T>C MANE Select | ENSP00000371985.3:p.Phe346Leu | |
ENST00000543874.3:n.105+1942T>C | ||
ENST00000639306.1:c.874T>C | ENSP00000492506.1:p.Phe292Leu | |
ENST00000639680.1:c.76+148T>C | ||
ENST00000382545.3:c.1036T>C | ENSP00000371985.3:p.Phe346Leu | |
ENST00000541095.1:n.105+1942T>C | ||
ENST00000543874.2:n.96+1942T>C | ||
NM_000217.2:c.1036T>C | NP_000208.2:p.Phe346Leu | |
NM_000217.3:c.1036T>C MANE Select | NP_000208.2:p.Phe346Leu |