Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670631C>A , CM000666.2:g.68670631C>A | GRCh38 |
| NC_000004.11:g.69536349C>A , CM000666.1:g.69536349C>A | GRCh37 |
| NC_000004.10:g.69218944C>A | NCBI36 |
| NG_052676.1:g.5146G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.-13G>T MANE Select | ENSP00000341045.5:n.-13G>T | |
| NM_001076.3:c.-13G>T | NP_001067.2:n.-13G>T | |
| NM_001076.4:c.-13G>T MANE Select | NP_001067.2:n.-13G>T |