HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912662C>A , CM000674.2:g.4912662C>A | GRCh38 |
NC_000012.11:g.5021828C>A , CM000674.1:g.5021828C>A | GRCh37 |
NC_000012.10:g.4892089C>A | NCBI36 |
NG_011815.1:g.7756C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1284C>A MANE Select | ENSP00000371985.3:p.Leu428= | |
ENST00000543874.3:n.105+2190C>A | ||
ENST00000639306.1:c.1122C>A | ENSP00000492506.1:p.Leu374= | |
ENST00000639680.1:c.76+396C>A | ||
ENST00000382545.3:c.1284C>A | ENSP00000371985.3:p.Leu428= | |
ENST00000541095.1:n.105+2190C>A | ||
ENST00000543874.2:n.96+2190C>A | ||
NM_000217.2:c.1284C>A | NP_000208.2:p.Leu428= | |
NM_000217.3:c.1284C>A MANE Select | NP_000208.2:p.Leu428= |