HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7502678T>A , CM000679.2:g.7502678T>A | GRCh38 |
NC_000017.10:g.7405997T>A , CM000679.1:g.7405997T>A | GRCh37 |
NC_000017.9:g.7346721T>A | NCBI36 |
NG_027747.1:g.23300T>A | |
NG_027747.2:g.23300T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617998.6:n.3132T>A | ||
ENST00000674977.2:c.2733T>A | ENSP00000502190.2:p.Pro911= | |
ENST00000576114.1:n.199T>A | ||
ENST00000617998.4:c.2733T>A | ENSP00000480158.1:p.Pro911= | |
ENST00000621442.4:c.2733T>A | ENSP00000483957.1:p.Pro911= | |
NM_000937.4:c.2733T>A | NP_000928.1:p.Pro911= | |
NM_000937.5:c.2733T>A MANE Select | NP_000928.1:p.Pro911= |