Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442363C= , CM000666.2:g.73442363C= | GRCh38 |
| NC_000004.11:g.74308080C= , CM000666.1:g.74308080C= | GRCh37 |
| NC_000004.10:g.74526944C= | NCBI36 |
| NG_023028.1:g.11148C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.550C= MANE Select | ENSP00000379138.2:p.Arg184= | |
| ENST00000226359.2:c.550C= | ENSP00000226359.2:p.Arg184= | |
| ENST00000395792.6:c.550C= | ENSP00000379138.2:p.Arg184= | |
| NM_001134.2:c.550C= | NP_001125.1:p.Arg184= | |
| XM_011531704.1:c.547C= | XP_011530006.1:p.Arg183= | |
| NM_001354717.1:c.76C= | NP_001341646.1:p.Arg26= | |
| NM_001134.3:c.550C= MANE Select | NP_001125.1:p.Arg184= | |
| NM_001354717.2:c.76C= | NP_001341646.2:p.Arg26= |