Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765109G= , CM000674.2:g.57765109G= | GRCh38 |
| NC_000012.11:g.58158892G= , CM000674.1:g.58158892G= | GRCh37 |
| NC_000012.10:g.56445159G= | NCBI36 |
| NG_007076.1:g.7085C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000546609.2:n.604C= | ||
| ENST00000713544.1:c.773C= | ENSP00000518840.1:p.Ser258= | |
| ENST00000713545.1:c.750C= | ENSP00000518841.1:p.Val250= | |
| ENST00000228606.9:c.692C= MANE Select | ENSP00000228606.4:p.Ser231= | |
| ENST00000228606.8:c.692C= | ENSP00000228606.4:p.Ser231= | |
| ENST00000546567.5:c.-14C= | ENSP00000449472.1:n.-14C= | |
| ENST00000546609.1:c.604C= | ||
| ENST00000547344.5:n.831C= | ||
| ENST00000547451.1:n.492C= | ||
| NM_000785.3:c.692C= | NP_000776.1:p.Ser231= | |
| NM_000785.4:c.692C= MANE Select | NP_000776.1:p.Ser231= |