Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23169830A>G , CM000675.2:g.23169830A>G | GRCh38 |
| NC_000013.10:g.23743969A>G , CM000675.1:g.23743969A>G | GRCh37 |
| NC_000013.9:g.22641969A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378244.1:c.54+9184A>G | NP_001365173.1:n.54+9184A>G |
| XM_006719861.2:c.54+9184A>G | XP_006719924.1:n.54+9184A>G |
| XM_006719861.3:c.54+9184A>G | XP_006719924.1:n.54+9184A>G |