HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271530G= , CM000668.2:g.31271530G= | GRCh38 |
NC_000006.11:g.31239307G= , CM000668.1:g.31239307G= | GRCh37 |
NC_000006.10:g.31347286G= | NCBI36 |
NG_029422.2:g.5602C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.343+69C= MANE Select | ENSP00000365402.5:n.343+69C= | |
ENST00000376228.9:c.343+69C= | ENSP00000365402.5:n.343+69C= | |
ENST00000376237.8:c.343+69C= | ENSP00000365412.4:n.343+69C= | |
ENST00000383329.7:c.343+69C= | ENSP00000372819.3:n.343+69C= | |
ENST00000415537.1:c.341+69C= | ||
ENST00000484378.1:n.431C= | ||
ENST00000487245.5:n.521C= | ||
ENST00000495835.1:n.532+69C= | ||
NM_002117.5:c.343+69C= | NP_002108.4:n.343+69C= | |
NM_002117.6:c.343+69C= MANE Select | NP_002108.4:n.343+69C= |