Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965291C= , CM000681.2:g.48965291C= | GRCh38 |
| NC_000019.9:g.49468548C= , CM000681.1:g.49468548C= | GRCh37 |
| NC_000019.8:g.54160360C= | NCBI36 |
| NG_008152.1:g.4983C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_024451447.1:c.294C= | XP_024307215.1:p.Arg98= |