Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764163C>G , CM000674.2:g.57764163C>G | GRCh38 |
| NC_000012.11:g.58157946C>G , CM000674.1:g.58157946C>G | GRCh37 |
| NC_000012.10:g.56444213C>G | NCBI36 |
| NG_007076.1:g.8031G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1231G>C | ENSP00000518840.1:p.Val411Leu | |
| ENST00000713545.1:c.*155G>C | ENSP00000518841.1:n.*155G>C | |
| ENST00000228606.9:c.1150G>C MANE Select | ENSP00000228606.4:p.Val384Leu | |
| ENST00000228606.8:c.1150G>C | ENSP00000228606.4:p.Val384Leu | |
| ENST00000546567.5:c.445G>C | ENSP00000449472.1:p.Val149Leu | |
| ENST00000547344.5:n.1289G>C | ||
| NM_000785.3:c.1150G>C | NP_000776.1:p.Val384Leu | |
| NM_000785.4:c.1150G>C MANE Select | NP_000776.1:p.Val384Leu |