HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551654C>A , CM000681.2:g.43551654C>A | GRCh38 |
NC_000019.9:g.44055806C>A , CM000681.1:g.44055806C>A | GRCh37 |
NC_000019.8:g.48747646C>A | NCBI36 |
NG_033799.1:g.28925G>T , LRG_784:g.28925G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.1116G>T MANE Select | ENSP00000262887.5:p.Gln372His | |
ENST00000262887.9:c.1116G>T | ENSP00000262887.4:p.Gln372His | |
ENST00000543982.5:c.1023G>T | ENSP00000443671.1:p.Gln341His | |
ENST00000597811.5:c.726G>T | ||
NM_006297.2:c.1116G>T , LRG_784t1:c.1116G>T | NP_006288.2:p.Gln372His | |
NM_006297.3:c.1116G>T MANE Select | NP_006288.2:p.Gln372His |