Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965234C>T , CM000681.2:g.48965234C>T | GRCh38 |
| NC_000019.9:g.49468491C>T , CM000681.1:g.49468491C>T | GRCh37 |
| NC_000019.8:g.54160303C>T | NCBI36 |
| NG_008152.1:g.4926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_024451447.1:c.237C>T | XP_024307215.1:p.Ala79= |