Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764538G>T , CM000674.2:g.57764538G>T | GRCh38 |
| NC_000012.11:g.58158321G>T , CM000674.1:g.58158321G>T | GRCh37 |
| NC_000012.10:g.56444588G>T | NCBI36 |
| NG_007076.1:g.7656C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1057C>A | ENSP00000518840.1:p.Leu353Ile | |
| ENST00000713545.1:c.1034C>A | ENSP00000518841.1:p.Ala345Asp | |
| ENST00000228606.9:c.976C>A MANE Select | ENSP00000228606.4:p.Leu326Ile | |
| ENST00000228606.8:c.976C>A | ENSP00000228606.4:p.Leu326Ile | |
| ENST00000546567.5:c.271C>A | ENSP00000449472.1:p.Leu91Ile | |
| ENST00000547344.5:n.1115C>A | ||
| NM_000785.3:c.976C>A | NP_000776.1:p.Leu326Ile | |
| NM_000785.4:c.976C>A MANE Select | NP_000776.1:p.Leu326Ile |