HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912655A>T , CM000674.2:g.4912655A>T | GRCh38 |
NC_000012.11:g.5021821A>T , CM000674.1:g.5021821A>T | GRCh37 |
NC_000012.10:g.4892082A>T | NCBI36 |
NG_011815.1:g.7749A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1277A>T MANE Select | ENSP00000371985.3:p.Gln426Leu | |
ENST00000543874.3:n.105+2183A>T | ||
ENST00000639306.1:c.1115A>T | ENSP00000492506.1:p.Gln372Leu | |
ENST00000639680.1:c.76+389A>T | ||
ENST00000382545.3:c.1277A>T | ENSP00000371985.3:p.Gln426Leu | |
ENST00000541095.1:n.105+2183A>T | ||
ENST00000543874.2:n.96+2183A>T | ||
NM_000217.2:c.1277A>T | NP_000208.2:p.Gln426Leu | |
NM_000217.3:c.1277A>T MANE Select | NP_000208.2:p.Gln426Leu |