Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766116G>C , CM000674.2:g.57766116G>C | GRCh38 |
| NC_000012.11:g.58159899G>C , CM000674.1:g.58159899G>C | GRCh37 |
| NC_000012.10:g.56446166G>C | NCBI36 |
| NG_007076.1:g.6078C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.189C>G | ||
| ENST00000713544.1:c.277C>G | ENSP00000518840.1:p.Leu93Val | |
| ENST00000713545.1:c.277C>G | ENSP00000518841.1:p.Leu93Val | |
| ENST00000228606.9:c.277C>G MANE Select | ENSP00000228606.4:p.Leu93Val | |
| ENST00000228606.8:c.277C>G | ENSP00000228606.4:p.Leu93Val | |
| ENST00000546496.1:n.105C>G | ||
| ENST00000546609.1:c.189C>G | ||
| ENST00000547344.5:n.331C>G | ||
| ENST00000552186.1:n.396C>G | ||
| NM_000785.3:c.277C>G | NP_000776.1:p.Leu93Val | |
| NM_000785.4:c.277C>G MANE Select | NP_000776.1:p.Leu93Val |