Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.616064C>A , CM000670.2:g.616064C>A | GRCh38 |
| NC_000008.10:g.566064C>A , CM000670.1:g.566064C>A | GRCh37 |
| NC_000008.9:g.556064C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522706.5:c.977-780G>T | ENSP00000428635.1:n.977-780G>T | |
| ENST00000523415.5:c.2315G>T | ||
| NM_001303100.1:c.*507G>T | NP_001290029.1:n.*507G>T | |
| XM_011534732.1:c.1442-780G>T | XP_011533034.1:n.1442-780G>T | |
| XM_011534735.1:c.*1942G>T | XP_011533037.1:n.*1942G>T | |
| XM_011534735.3:c.*1942G>T | XP_011533037.1:n.*1942G>T | |
| XM_017013124.2:c.1457-780G>T | XP_016868613.1:n.1457-780G>T | |
| NM_001303100.2:c.*507G>T | NP_001290029.1:n.*507G>T |