HGVS | Genome Assembly |
---|---|
NC_000022.11:g.23285123C>A , CM000684.2:g.23285123C>A | GRCh38 |
NC_000022.10:g.23627310C>A , CM000684.1:g.23627310C>A | GRCh37 |
NC_000022.9:g.21957310C>A | NCBI36 |
NG_009244.1:g.109759C>A | |
NG_009244.2:g.109759C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305877.13:c.2328C>A MANE Select | ENSP00000303507.8:p.Ile776= | |
ENST00000305877.12:c.2328C>A | ENSP00000303507.8:p.Ile776= | |
ENST00000359540.7:c.2328C>A | ENSP00000352535.3:p.Ile776= | |
ENST00000398512.9:c.1270-3021C>A | ENSP00000381524.6:n.1270-3021C>A | |
ENST00000466076.1:n.402C>A | ||
ENST00000487968.5:n.981C>A | ||
NM_004327.3:c.2328C>A | NP_004318.3:p.Ile776= | |
NM_021574.2:c.2328C>A | NP_067585.2:p.Ile776= | |
NM_004327.4:c.2328C>A MANE Select | NP_004318.3:p.Ile776= | |
NM_021574.3:c.2328C>A | NP_067585.2:p.Ile776= |