Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764524C= , CM000674.2:g.57764524C= | GRCh38 |
| NC_000012.11:g.58158307C= , CM000674.1:g.58158307C= | GRCh37 |
| NC_000012.10:g.56444574C= | NCBI36 |
| NG_007076.1:g.7670G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1071G= | ENSP00000518840.1:p.Leu357= | |
| ENST00000713545.1:c.1048G= | ENSP00000518841.1:p.Val350= | |
| ENST00000228606.9:c.990G= MANE Select | ENSP00000228606.4:p.Leu330= | |
| ENST00000228606.8:c.990G= | ENSP00000228606.4:p.Leu330= | |
| ENST00000546567.5:c.285G= | ENSP00000449472.1:p.Leu95= | |
| ENST00000547344.5:n.1129G= | ||
| NM_000785.3:c.990G= | NP_000776.1:p.Leu330= | |
| NM_000785.4:c.990G= MANE Select | NP_000776.1:p.Leu330= |