Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962919C= , CM000666.2:g.42962919C= | GRCh38 |
| NC_000004.11:g.42964936C= , CM000666.1:g.42964936C= | GRCh37 |
| NC_000004.10:g.42659693C= | NCBI36 |
| NG_027718.1:g.74654C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.412C= MANE Select | NP_001073945.1:p.Arg138= |
| ENST00000399770.3:c.412C= MANE Select | ENSP00000382670.2:p.Arg138= |
| NM_001080476.2:c.412C= | NP_001073945.1:p.Arg138= |
| ENST00000399770.2:c.412C= | ENSP00000382670.2:p.Arg138= |
| XM_011513691.1:c.49C= | XP_011511993.1:p.Arg17= |