HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388354G>A , CM000665.2:g.190388354G>A | GRCh38 |
NC_000003.11:g.190106143G>A , CM000665.1:g.190106143G>A | GRCh37 |
NC_000003.10:g.191588837G>A | NCBI36 |
NG_008149.1:g.5303G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264734.3:c.25G>A MANE Select | ENSP00000264734.3:p.Ala9Thr | |
ENST00000456423.2:c.25G>A | ENSP00000414136.2:p.Ala9Thr | |
ENST00000264734.2:c.235G>A | ENSP00000264734.2:p.Ala79Thr | |
ENST00000456423.1:c.235G>A | ENSP00000414136.1:p.Ala79Thr | |
ENST00000468220.1:n.306+13751G>A | ||
NM_006580.3:c.235G>A | NP_006571.1:p.Ala79Thr | |
NM_001378492.1:c.25G>A | NP_001365421.1:p.Ala9Thr | |
NM_001378493.1:c.25G>A | NP_001365422.1:p.Ala9Thr | |
NM_006580.4:c.25G>A MANE Select | NP_006571.2:p.Ala9Thr |