Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83549241G>A , CM000671.2:g.83549241G>A | GRCh38 |
| NC_000009.11:g.86164156G>A , CM000671.1:g.86164156G>A | GRCh37 |
| NC_000009.10:g.85353976G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017014588.1:c.24+10929C>T | XP_016870077.1:n.24+10929C>T | |
| XM_024447487.1:c.-142+25669C>T | XP_024303255.1:n.-142+25669C>T | |
| XM_024447489.1:c.-142+25669C>T | XP_024303257.1:n.-142+25669C>T |