HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271408G= , CM000668.2:g.31271408G= | GRCh38 |
NC_000006.11:g.31239185G= , CM000668.1:g.31239185G= | GRCh37 |
NC_000006.10:g.31347164G= | NCBI36 |
NG_029422.2:g.5724C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.344-60C= MANE Select | ENSP00000365402.5:n.344-60C= | |
ENST00000376228.9:c.344-60C= | ENSP00000365402.5:n.344-60C= | |
ENST00000376237.8:c.344-77C= | ENSP00000365412.4:n.344-77C= | |
ENST00000383329.7:c.344-60C= | ENSP00000372819.3:n.344-60C= | |
ENST00000415537.1:c.342-60C= | ||
ENST00000484378.1:n.553C= | ||
ENST00000487245.5:n.643C= | ||
ENST00000495835.1:n.533-60C= | ||
NM_002117.5:c.344-60C= | NP_002108.4:n.344-60C= | |
NM_002117.6:c.344-60C= MANE Select | NP_002108.4:n.344-60C= |