HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750803T>A , CM000684.2:g.27750803T>A | GRCh38 |
NC_000022.10:g.28146791T>A , CM000684.1:g.28146791T>A | GRCh37 |
NC_000022.9:g.26476791T>A | NCBI36 |
NG_023258.1:g.55696A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.600A>T | ||
ENST00000302326.5:c.*112A>T MANE Select | ENSP00000304956.4:n.*112A>T | |
ENST00000302326.4:c.*112A>T | ENSP00000304956.4:n.*112A>T | |
ENST00000424656.1:c.428A>T | ||
ENST00000497225.1:n.431A>T | ||
NM_002430.2:c.*112A>T | NP_002421.3:n.*112A>T | |
NM_002430.3:c.*112A>T MANE Select | NP_002421.3:n.*112A>T |