Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.630053C= , CM000663.2:g.630053C= | GRCh38 |
| NC_000001.10:g.565433C= , CM000663.1:g.565433C= | GRCh37 |
| NC_000001.9:g.555296C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419394.2:n.481-43098G= | ||
| ENST00000440196.3:n.87-1047G= | ||
| ENST00000440200.5:n.170-21997G= | ||
| ENST00000452176.2:n.21-1047G= | ||
| ENST00000634337.2:n.161-21997G= | ||
| ENST00000635509.2:n.313-28476G= | ||
| ENST00000641296.1:n.75-1047G= | ||
| ENST00000648019.1:n.636-21997G= | ||
| ENST00000457540.1:n.414C= |