Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NW_009646206.1:g.177490G>A , KN196484.1:g.177490G>A | |
| NC_000019.9:g.40408254G>A , CM000681.1:g.40408254G>A | GRCh37 |
| NC_000019.8:g.45100094G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011548810.1:c.4585C>T | XP_011547112.1:p.Pro1529Ser |
| XM_011548811.1:c.4585C>T | XP_011547113.1:p.Pro1529Ser |
| XM_011548812.1:c.4585C>T | XP_011547114.1:p.Pro1529Ser |