Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206865341C>A , CM000663.2:g.206865341C>A | GRCh38 |
| NC_000001.10:g.207038686C>A , CM000663.1:g.207038686C>A | GRCh37 |
| NC_000001.9:g.205105309C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_005273152.3:c.-121C>A | XP_005273209.1:n.-121C>A | |
| NM_001385166.1:c.-170-206C>A | NP_001372095.1:n.-170-206C>A | |
| NM_001385167.1:c.-251-5C>A | NP_001372096.1:n.-251-5C>A |