Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965296G>A , CM000681.2:g.48965296G>A | GRCh38 |
| NC_000019.9:g.49468553G>A , CM000681.1:g.49468553G>A | GRCh37 |
| NC_000019.8:g.54160365G>A | NCBI36 |
| NG_008152.1:g.4988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_024451447.1:c.299G>A | XP_024307215.1:p.Ser100Asn |