Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172887C>T , CM000678.2:g.172887C>T | GRCh38 |
| NC_000016.9:g.222886C>T , CM000678.1:g.222886C>T | GRCh37 |
| NC_000016.8:g.162886C>T | NCBI36 |
| NG_000006.1:g.33750C>T | |
| NG_059186.1:g.1237C>T | |
| NG_059271.1:g.5041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.-26C>T MANE Select | ENSP00000251595.6:n.-26C>T | |
| ENST00000251595.10:c.-26C>T | ENSP00000251595.6:n.-26C>T | |
| NM_000517.4:c.-26C>T | NP_000508.1:n.-26C>T | |
| NM_000517.6:c.-26C>T MANE Select | NP_000508.1:n.-26C>T |