Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764487G= , CM000674.2:g.57764487G= | GRCh38 |
| NC_000012.11:g.58158270G= , CM000674.1:g.58158270G= | GRCh37 |
| NC_000012.10:g.56444537G= | NCBI36 |
| NG_007076.1:g.7707C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.1027C= MANE Select | NP_000776.1:p.Leu343= |
| ENST00000228606.9:c.1027C= MANE Select | ENSP00000228606.4:p.Leu343= |
| NM_000785.3:c.1027C= | NP_000776.1:p.Leu343= |
| ENST00000228606.8:c.1027C= | ENSP00000228606.4:p.Leu343= |
| ENST00000546567.5:c.322C= | ENSP00000449472.1:p.Leu108= |
| ENST00000547344.5:n.1166C= | |
| ENST00000713544.1:c.1108C= | ENSP00000518840.1:p.Leu370= |
| ENST00000713545.1:c.*32C= | ENSP00000518841.1:n.*32C= |