Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433905G>C , CM000674.2:g.52433905G>C | GRCh38 |
| NC_000012.11:g.52827689G>C , CM000674.1:g.52827689G>C | GRCh37 |
| NC_000012.10:g.51113956G>C | NCBI36 |
| NG_008403.1:g.5422C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.400C>G MANE Select | ENSP00000252245.5:p.Leu134Val | |
| ENST00000252245.5:c.400C>G | ENSP00000252245.5:p.Leu134Val | |
| NM_004693.2:c.400C>G | NP_004684.2:p.Leu134Val | |
| NM_004693.3:c.400C>G MANE Select | NP_004684.2:p.Leu134Val |