Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764447C>A , CM000674.2:g.57764447C>A | GRCh38 |
| NC_000012.11:g.58158230C>A , CM000674.1:g.58158230C>A | GRCh37 |
| NC_000012.10:g.56444497C>A | NCBI36 |
| NG_007076.1:g.7747G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1148G>T | ENSP00000518840.1:p.Ser383Ile | |
| ENST00000713545.1:c.*72G>T | ENSP00000518841.1:n.*72G>T | |
| ENST00000228606.9:c.1067G>T MANE Select | ENSP00000228606.4:p.Ser356Ile | |
| ENST00000228606.8:c.1067G>T | ENSP00000228606.4:p.Ser356Ile | |
| ENST00000546567.5:c.362G>T | ENSP00000449472.1:p.Ser121Ile | |
| ENST00000547344.5:n.1206G>T | ||
| NM_000785.3:c.1067G>T | NP_000776.1:p.Ser356Ile | |
| NM_000785.4:c.1067G>T MANE Select | NP_000776.1:p.Ser356Ile |