Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963006C= , CM000666.2:g.42963006C= | GRCh38 |
| NC_000004.11:g.42965023C= , CM000666.1:g.42965023C= | GRCh37 |
| NC_000004.10:g.42659780C= | NCBI36 |
| NG_027718.1:g.74741C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.499C= MANE Select | ENSP00000382670.2:p.Arg167= | |
| ENST00000399770.2:c.499C= | ENSP00000382670.2:p.Arg167= | |
| NM_001080476.2:c.499C= | NP_001073945.1:p.Arg167= | |
| XM_011513691.1:c.136C= | XP_011511993.1:p.Arg46= | |
| NM_001080476.3:c.499C= MANE Select | NP_001073945.1:p.Arg167= |