Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82148511G>T , CM000678.2:g.82148511G>T | GRCh38 |
| NC_000016.9:g.82182116G>T , CM000678.1:g.82182116G>T | GRCh37 |
| NC_000016.8:g.80739617G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258169.9:c.*220C>A MANE Select | ENSP00000258169.4:n.*220C>A | |
| ENST00000258169.8:c.*220C>A | ENSP00000258169.4:n.*220C>A | |
| ENST00000563100.5:c.*72+148C>A | ENSP00000454996.1:n.*72+148C>A | |
| NM_005792.2:c.*220C>A MANE Select | NP_005783.2:n.*220C>A | |
| XM_011522808.1:c.*220C>A | XP_011521110.1:n.*220C>A | |
| XM_011522808.3:c.*220C>A | XP_011521110.1:n.*220C>A |