HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443455T>A , CM000668.2:g.32443455T>A | GRCh38 |
NC_000006.11:g.32411232T>A , CM000668.1:g.32411232T>A | GRCh37 |
NC_000006.10:g.32519210T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.599T>A MANE Select | ENSP00000378786.2:p.Leu200His | |
ENST00000374982.5:c.524T>A | ENSP00000364121.5:p.Leu175His | |
ENST00000395388.6:c.599T>A | ENSP00000378786.2:p.Leu200His | |
NM_019111.4:c.599T>A | NP_061984.2:p.Leu200His | |
NM_019111.5:c.599T>A MANE Select | NP_061984.2:p.Leu200His |