Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125607576G>T , CM000672.2:g.125607576G>T | GRCh38 |
| NC_000010.10:g.127296145G>T , CM000672.1:g.127296145G>T | GRCh37 |
| NC_000010.9:g.127286135G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001318133.1:c.265-30702C>A | NP_001305062.1:n.265-30702C>A |
| NM_001318133.2:c.265-30702C>A | NP_001305062.1:n.265-30702C>A |
| ENST00000532135.5:c.265-30702C>A | ENSP00000431764.1:n.265-30702C>A |
| XM_005269816.2:c.265-30702C>A | XP_005269873.1:n.265-30702C>A |