Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516781A>C , CM000674.2:g.52516781A>C | GRCh38 |
| NC_000012.11:g.52910565A>C , CM000674.1:g.52910565A>C | GRCh37 |
| NC_000012.10:g.51196832A>C | NCBI36 |
| NG_008297.1:g.8679T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1295T>G MANE Select | ENSP00000252242.4:p.Leu432Arg | |
| ENST00000252242.8:c.1295T>G | ENSP00000252242.4:p.Leu432Arg | |
| ENST00000547890.5:n.673T>G | ||
| ENST00000548409.5:c.417T>G | ||
| ENST00000549511.5:n.502T>G | ||
| ENST00000552629.5:n.1393T>G | ||
| NM_000424.3:c.1295T>G | NP_000415.2:p.Leu432Arg | |
| NM_000424.4:c.1295T>G MANE Select | NP_000415.2:p.Leu432Arg |