Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15525539C>T , CM000663.2:g.15525539C>T | GRCh38 |
| NC_000001.10:g.15852034C>T , CM000663.1:g.15852034C>T | GRCh37 |
| NC_000001.9:g.15724621C>T | NCBI36 |
| NG_029188.1:g.4252G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000469637.1:c.-239+652G>A | ENSP00000480785.1:n.-239+652G>A |
| XM_011542272.1:c.-118+652G>A | XP_011540574.1:n.-118+652G>A |