Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646936G>T , CM000666.2:g.68646936G>T | GRCh38 |
| NC_000004.11:g.69512654G>T , CM000666.1:g.69512654G>T | GRCh37 |
| NC_000004.10:g.69195249G>T | NCBI36 |
| NG_052676.1:g.28841C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001076.4:c.*168C>A MANE Select | NP_001067.2:n.*168C>A |
| ENST00000338206.6:c.*168C>A MANE Select | ENSP00000341045.5:n.*168C>A |
| NM_001076.3:c.*168C>A | NP_001067.2:n.*168C>A |
| ENST00000338206.5:c.*168C>A | ENSP00000341045.5:n.*168C>A |
| ENST00000616841.4:c.1732+29C>A | ENSP00000482004.1:n.1732+29C>A |