Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172957G>C , CM000678.2:g.172957G>C | GRCh38 |
| NC_000016.9:g.222956G>C , CM000678.1:g.222956G>C | GRCh37 |
| NC_000016.8:g.162956G>C | NCBI36 |
| NG_000006.1:g.33820G>C | |
| NG_059186.1:g.1307G>C | |
| NG_059271.1:g.5111G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.45G>C MANE Select | ENSP00000251595.6:p.Trp15Cys | |
| ENST00000251595.10:c.45G>C | ENSP00000251595.6:p.Trp15Cys | |
| ENST00000397806.1:c.-3G>C | ENSP00000380908.1:n.-3G>C | |
| ENST00000482565.1:n.64G>C | ||
| ENST00000484216.1:n.14G>C | ||
| NM_000517.4:c.45G>C | NP_000508.1:p.Trp15Cys | |
| NM_000517.6:c.45G>C MANE Select | NP_000508.1:p.Trp15Cys |