Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.616067C>T , CM000670.2:g.616067C>T | GRCh38 |
| NC_000008.10:g.566067C>T , CM000670.1:g.566067C>T | GRCh37 |
| NC_000008.9:g.556067C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522706.5:c.977-783G>A | ENSP00000428635.1:n.977-783G>A | |
| ENST00000523415.5:c.2312G>A | ||
| NM_001303100.1:c.*504G>A | NP_001290029.1:n.*504G>A | |
| XM_011534732.1:c.1442-783G>A | XP_011533034.1:n.1442-783G>A | |
| XM_011534735.1:c.*1939G>A | XP_011533037.1:n.*1939G>A | |
| XM_011534735.3:c.*1939G>A | XP_011533037.1:n.*1939G>A | |
| XM_017013124.2:c.1457-783G>A | XP_016868613.1:n.1457-783G>A | |
| NM_001303100.2:c.*504G>A | NP_001290029.1:n.*504G>A |