Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646665G>T , CM000666.2:g.68646665G>T | GRCh38 |
| NC_000004.11:g.69512383G>T , CM000666.1:g.69512383G>T | GRCh37 |
| NC_000004.10:g.69194978G>T | NCBI36 |
| NG_052676.1:g.29112C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*439C>A MANE Select | ENSP00000341045.5:n.*439C>A | |
| ENST00000338206.5:c.*439C>A | ENSP00000341045.5:n.*439C>A | |
| ENST00000616841.4:c.1732+300C>A | ENSP00000482004.1:n.1732+300C>A | |
| NM_001076.3:c.*439C>A | NP_001067.2:n.*439C>A | |
| NM_001076.4:c.*439C>A MANE Select | NP_001067.2:n.*439C>A |