HGVS | Genome Assembly |
---|---|
NC_000002.12:g.47377047A>T , CM000664.2:g.47377047A>T | GRCh38 |
NC_000002.11:g.47604186A>T , CM000664.1:g.47604186A>T | GRCh37 |
NC_000002.10:g.47457690A>T | NCBI36 |
NG_012352.2:g.36885A>T , LRG_215:g.36885A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263735.9:c.525A>T MANE Select | ENSP00000263735.4:p.Gln175His | |
ENST00000263735.8:c.525A>T | ENSP00000263735.4:p.Gln175His | |
ENST00000405271.5:c.609A>T | ENSP00000385476.1:p.Gln203His | |
ENST00000456133.5:c.609A>T | ENSP00000410675.1:p.Gln203His | |
ENST00000490733.1:n.374A>T | ||
NM_002354.2:c.525A>T , LRG_215t1:c.525A>T | NP_002345.2:p.Gln175His | |
NM_002354.3:c.525A>T MANE Select | NP_002345.2:p.Gln175His |