Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963030A= , CM000666.2:g.42963030A= | GRCh38 |
| NC_000004.11:g.42965047A= , CM000666.1:g.42965047A= | GRCh37 |
| NC_000004.10:g.42659804A= | NCBI36 |
| NG_027718.1:g.74765A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.523A= MANE Select | ENSP00000382670.2:p.Ile175= | |
| ENST00000399770.2:c.523A= | ENSP00000382670.2:p.Ile175= | |
| NM_001080476.2:c.523A= | NP_001073945.1:p.Ile175= | |
| XM_011513691.1:c.160A= | XP_011511993.1:p.Ile54= | |
| NM_001080476.3:c.523A= MANE Select | NP_001073945.1:p.Ile175= |