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