HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443347C>A , CM000668.2:g.32443347C>A | GRCh38 |
NC_000006.11:g.32411124C>A , CM000668.1:g.32411124C>A | GRCh37 |
NC_000006.10:g.32519102C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.491C>A MANE Select | ENSP00000378786.2:p.Pro164His | |
ENST00000374982.5:c.416C>A | ENSP00000364121.5:p.Pro139His | |
ENST00000395388.6:c.491C>A | ENSP00000378786.2:p.Pro164His | |
NM_019111.4:c.491C>A | NP_061984.2:p.Pro164His | |
NM_019111.5:c.491C>A MANE Select | NP_061984.2:p.Pro164His |