HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519736G>T , CM000674.2:g.52519736G>T | GRCh38 |
NC_000012.11:g.52913520G>T , CM000674.1:g.52913520G>T | GRCh37 |
NC_000012.10:g.51199787G>T | NCBI36 |
NG_008297.1:g.5724C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252242.9:c.555+6C>A MANE Select | ENSP00000252242.4:n.555+6C>A | |
ENST00000252242.8:c.555+6C>A | ENSP00000252242.4:n.555+6C>A | |
ENST00000549420.1:c.225+6C>A | ENSP00000447209.1:n.225+6C>A | |
ENST00000552629.5:n.653+6C>A | ||
NM_000424.3:c.555+6C>A | NP_000415.2:n.555+6C>A | |
NM_000424.4:c.555+6C>A MANE Select | NP_000415.2:n.555+6C>A |