HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535366T>A , CM000663.2:g.1535366T>A | GRCh38 |
NC_000001.10:g.1470746T>A , CM000663.1:g.1470746T>A | GRCh37 |
NC_000001.9:g.1460609T>A | NCBI36 |
NG_041807.1:g.9995A>T | |
NG_053035.1:g.28224T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378733.9:c.515A>T MANE Select | ENSP00000368007.4:p.His172Leu | |
ENST00000378733.8:c.515A>T | ENSP00000368007.4:p.His172Leu | |
ENST00000425828.1:c.515A>T | ENSP00000400311.1:p.His172Leu | |
NM_001114748.1:c.515A>T | NP_001108220.1:p.His172Leu | |
NM_001114748.2:c.515A>T MANE Select | NP_001108220.1:p.His172Leu |