HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43067925C>A , CM000677.2:g.43067925C>A | GRCh38 |
NC_000015.9:g.43360123C>A , CM000677.1:g.43360123C>A | GRCh37 |
NC_000015.8:g.41147415C>A | NCBI36 |
NG_012182.1:g.43164G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.771G>T MANE Select | ENSP00000290650.4:p.Gln257His | |
ENST00000290650.8:c.771G>T | ENSP00000290650.4:p.Gln257His | |
ENST00000546274.6:c.771G>T | ENSP00000477932.1:p.Gln257His | |
ENST00000563239.1:c.*202+2974G>T | ENSP00000456502.1:n.*202+2974G>T | |
NM_174916.2:c.771G>T | NP_777576.1:p.Gln257His | |
NM_174916.3:c.771G>T MANE Select | NP_777576.1:p.Gln257His |