Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516682A>C , CM000674.2:g.52516682A>C | GRCh38 |
| NC_000012.11:g.52910466A>C , CM000674.1:g.52910466A>C | GRCh37 |
| NC_000012.10:g.51196733A>C | NCBI36 |
| NG_008297.1:g.8778T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1394T>G MANE Select | NP_000415.2:p.Val465Gly |
| ENST00000252242.9:c.1394T>G MANE Select | ENSP00000252242.4:p.Val465Gly |
| NM_000424.3:c.1394T>G | NP_000415.2:p.Val465Gly |
| ENST00000252242.8:c.1394T>G | ENSP00000252242.4:p.Val465Gly |
| ENST00000548409.5:c.516T>G | |
| ENST00000549511.5:n.601T>G | |
| ENST00000552629.5:n.1492T>G |