HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516320A>C , CM000674.2:g.52516320A>C | GRCh38 |
NC_000012.11:g.52910104A>C , CM000674.1:g.52910104A>C | GRCh37 |
NC_000012.10:g.51196371A>C | NCBI36 |
NG_008297.1:g.9140T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+317T>G MANE Select | ENSP00000252242.4:n.1439+317T>G | |
ENST00000252242.8:c.1439+317T>G | ENSP00000252242.4:n.1439+317T>G | |
ENST00000548409.5:c.561+317T>G | ||
ENST00000549511.5:n.646+317T>G | ||
ENST00000552629.5:n.1854T>G | ||
NM_000424.3:c.1439+317T>G | NP_000415.2:n.1439+317T>G | |
NM_000424.4:c.1439+317T>G MANE Select | NP_000415.2:n.1439+317T>G |