Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442358C>T , CM000666.2:g.73442358C>T | GRCh38 |
| NC_000004.11:g.74308075C>T , CM000666.1:g.74308075C>T | GRCh37 |
| NC_000004.10:g.74526939C>T | NCBI36 |
| NG_023028.1:g.11143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.545C>T MANE Select | ENSP00000379138.2:p.Ala182Val | |
| ENST00000226359.2:c.545C>T | ENSP00000226359.2:p.Ala182Val | |
| ENST00000395792.6:c.545C>T | ENSP00000379138.2:p.Ala182Val | |
| NM_001134.2:c.545C>T | NP_001125.1:p.Ala182Val | |
| XM_011531704.1:c.542C>T | XP_011530006.1:p.Ala181Val | |
| NM_001354717.1:c.71C>T | NP_001341646.1:p.Ala24Val | |
| NM_001134.3:c.545C>T MANE Select | NP_001125.1:p.Ala182Val | |
| NM_001354717.2:c.71C>T | NP_001341646.2:p.Ala24Val |