Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516733C>A , CM000674.2:g.52516733C>A | GRCh38 |
| NC_000012.11:g.52910517C>A , CM000674.1:g.52910517C>A | GRCh37 |
| NC_000012.10:g.51196784C>A | NCBI36 |
| NG_008297.1:g.8727G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1343G>T MANE Select | ENSP00000252242.4:p.Arg448Leu | |
| ENST00000252242.8:c.1343G>T | ENSP00000252242.4:p.Arg448Leu | |
| ENST00000547890.5:n.721G>T | ||
| ENST00000548409.5:c.465G>T | ||
| ENST00000549511.5:n.550G>T | ||
| ENST00000552629.5:n.1441G>T | ||
| NM_000424.3:c.1343G>T | NP_000415.2:p.Arg448Leu | |
| NM_000424.4:c.1343G>T MANE Select | NP_000415.2:p.Arg448Leu |