Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42893495C= , CM000666.2:g.42893495C= | GRCh38 |
| NC_000004.11:g.42895512C= , CM000666.1:g.42895512C= | GRCh37 |
| NC_000004.10:g.42590269C= | NCBI36 |
| NG_027718.1:g.5230C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.229C= MANE Select | NP_001073945.1:p.Gln77= |
| ENST00000399770.3:c.229C= MANE Select | ENSP00000382670.2:p.Gln77= |
| NM_001080476.2:c.229C= | NP_001073945.1:p.Gln77= |
| ENST00000399770.2:c.229C= | ENSP00000382670.2:p.Gln77= |