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