Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.514471G>A , CM000680.2:g.514471G>A | GRCh38 |
| NC_000018.9:g.514471G>A , CM000680.1:g.514471G>A | GRCh37 |
| NC_000018.8:g.504471G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_136505.1:n.260+225C>T | |
| XM_011525782.1:c.876+255C>T | XP_011524084.1:n.876+255C>T |