HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57133389C>A , CM000674.2:g.57133389C>A | GRCh38 |
NC_000012.11:g.57527172C>A , CM000674.1:g.57527172C>A | GRCh37 |
NC_000012.10:g.55813439C>A | NCBI36 |
NG_016444.1:g.9891C>A | |
NG_021272.2:g.3751G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243077.8:c.67+4358C>A MANE Select | ENSP00000243077.3:n.67+4358C>A | |
ENST00000243077.7:c.67+4358C>A | ENSP00000243077.3:n.67+4358C>A | |
ENST00000338962.8:c.67+4358C>A | ENSP00000341264.4:n.67+4358C>A | |
ENST00000553277.5:c.67+4358C>A | ENSP00000451449.1:n.67+4358C>A | |
ENST00000554174.1:c.67+4358C>A | ENSP00000451737.1:n.67+4358C>A | |
NM_002332.2:c.67+4358C>A | NP_002323.2:n.67+4358C>A | |
XM_017019303.1:c.67+4358C>A | XP_016874792.1:n.67+4358C>A | |
NM_002332.3:c.67+4358C>A MANE Select | NP_002323.2:n.67+4358C>A |