Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646817G>A , CM000666.2:g.68646817G>A | GRCh38 |
| NC_000004.11:g.69512535G>A , CM000666.1:g.69512535G>A | GRCh37 |
| NC_000004.10:g.69195130G>A | NCBI36 |
| NG_052676.1:g.28960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*287C>T MANE Select | ENSP00000341045.5:n.*287C>T | |
| ENST00000338206.5:c.*287C>T | ENSP00000341045.5:n.*287C>T | |
| ENST00000616841.4:c.1732+148C>T | ENSP00000482004.1:n.1732+148C>T | |
| NM_001076.3:c.*287C>T | NP_001067.2:n.*287C>T | |
| NM_001076.4:c.*287C>T MANE Select | NP_001067.2:n.*287C>T |