Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764384A>G , CM000674.2:g.57764384A>G | GRCh38 |
| NC_000012.11:g.58158167A>G , CM000674.1:g.58158167A>G | GRCh37 |
| NC_000012.10:g.56444434A>G | NCBI36 |
| NG_007076.1:g.7810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1211T>C | ENSP00000518840.1:p.Val404Ala | |
| ENST00000713545.1:c.*135T>C | ENSP00000518841.1:n.*135T>C | |
| ENST00000228606.9:c.1130T>C MANE Select | ENSP00000228606.4:p.Val377Ala | |
| ENST00000228606.8:c.1130T>C | ENSP00000228606.4:p.Val377Ala | |
| ENST00000546567.5:c.425T>C | ENSP00000449472.1:p.Val142Ala | |
| ENST00000547344.5:n.1269T>C | ||
| NM_000785.3:c.1130T>C | NP_000776.1:p.Val377Ala | |
| NM_000785.4:c.1130T>C MANE Select | NP_000776.1:p.Val377Ala |