Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670636C>T , CM000666.2:g.68670636C>T | GRCh38 |
| NC_000004.11:g.69536354C>T , CM000666.1:g.69536354C>T | GRCh37 |
| NC_000004.10:g.69218949C>T | NCBI36 |
| NG_052676.1:g.5141G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.-18G>A MANE Select | ENSP00000341045.5:n.-18G>A | |
| NM_001076.3:c.-18G>A | NP_001067.2:n.-18G>A | |
| NM_001076.4:c.-18G>A MANE Select | NP_001067.2:n.-18G>A |