Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28878650C>T , CM000678.2:g.28878650C>T | GRCh38 |
| NC_000016.9:g.28889971C>T , CM000678.1:g.28889971C>T | GRCh37 |
| NC_000016.8:g.28797472C>T | NCBI36 |
| NG_023327.1:g.5163C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004320.6:c.-22C>T MANE Select | NP_004311.1:n.-22C>T |
| ENST00000395503.9:c.-22C>T MANE Select | ENSP00000378879.5:n.-22C>T |
| NM_004320.4:c.-22C>T | NP_004311.1:n.-22C>T |
| NM_173201.3:c.-22C>T | NP_775293.1:n.-22C>T |
| NM_173201.4:c.-22C>T | NP_775293.1:n.-22C>T |
| NM_173201.5:c.-22C>T | NP_775293.1:n.-22C>T |
| ENST00000357084.7:c.-22C>T | ENSP00000349595.3:n.-22C>T |
| ENST00000395503.8:c.-22C>T | ENSP00000378879.4:n.-22C>T |