HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116822664T>A , CM000673.2:g.116822664T>A | GRCh38 |
NC_000011.9:g.116693380T>A , CM000673.1:g.116693380T>A | GRCh37 |
NC_000011.8:g.116198590T>A | NCBI36 |
NG_012044.1:g.5632A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357780.5:c.171A>T MANE Select | ENSP00000350425.3:p.Gln57His | |
ENST00000357780.4:c.171A>T | ENSP00000350425.3:p.Gln57His | |
NM_000482.3:c.171A>T | NP_000473.2:p.Gln57His | |
NM_000482.4:c.171A>T MANE Select | NP_000473.2:p.Gln57His |