Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963023G= , CM000666.2:g.42963023G= | GRCh38 |
| NC_000004.11:g.42965040G= , CM000666.1:g.42965040G= | GRCh37 |
| NC_000004.10:g.42659797G= | NCBI36 |
| NG_027718.1:g.74758G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.516G= MANE Select | ENSP00000382670.2:p.Glu172= | |
| ENST00000399770.2:c.516G= | ENSP00000382670.2:p.Glu172= | |
| NM_001080476.2:c.516G= | NP_001073945.1:p.Glu172= | |
| XM_011513691.1:c.153G= | XP_011511993.1:p.Glu51= | |
| NM_001080476.3:c.516G= MANE Select | NP_001073945.1:p.Glu172= |