HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443318C>A , CM000668.2:g.32443318C>A | GRCh38 |
NC_000006.11:g.32411095C>A , CM000668.1:g.32411095C>A | GRCh37 |
NC_000006.10:g.32519073C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.462C>A MANE Select | ENSP00000378786.2:p.Thr154= | |
ENST00000374982.5:c.387C>A | ENSP00000364121.5:p.Thr129= | |
ENST00000395388.6:c.462C>A | ENSP00000378786.2:p.Thr154= | |
NM_019111.4:c.462C>A | NP_061984.2:p.Thr154= | |
NM_019111.5:c.462C>A MANE Select | NP_061984.2:p.Thr154= |