Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11826180A= , CM000678.2:g.11826180A= | GRCh38 |
| NC_000016.9:g.11920037A= , CM000678.1:g.11920037A= | GRCh37 |
| NC_000016.8:g.11827538A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_024049.1:n.512-1441T= | |
| NR_024050.1:n.204+2142T= | |
| NR_131216.1:n.134+2519T= | |
| NR_131217.1:n.419+2142T= | |
| NR_131222.1:n.134+2519T= |