HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516660C>A , CM000674.2:g.52516660C>A | GRCh38 |
NC_000012.11:g.52910444C>A , CM000674.1:g.52910444C>A | GRCh37 |
NC_000012.10:g.51196711C>A | NCBI36 |
NG_008297.1:g.8800G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1416G>T MANE Select | ENSP00000252242.4:p.Lys472Asn | |
ENST00000252242.8:c.1416G>T | ENSP00000252242.4:p.Lys472Asn | |
ENST00000548409.5:c.538G>T | ||
ENST00000549511.5:n.623G>T | ||
ENST00000552629.5:n.1514G>T | ||
NM_000424.3:c.1416G>T | NP_000415.2:p.Lys472Asn | |
NM_000424.4:c.1416G>T MANE Select | NP_000415.2:p.Lys472Asn |