Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.27330971C= , CM000676.2:g.27330971C= | GRCh38 |
| NC_000014.8:g.27800177C= , CM000676.1:g.27800177C= | GRCh37 |
| NC_000014.7:g.26870017C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_148991.1:n.254-8830G= | |
| NR_148992.1:n.359-8830G= | |
| ENST00000553392.5:n.263-8830G= | |
| ENST00000554904.5:n.254-8830G= | |
| ENST00000555797.1:n.349-8830G= | |
| ENST00000556890.1:n.359-8830G= | |
| XR_110268.4:n.359-8830G= | |
| XR_943665.1:n.254-8830G= |