Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220836863C= , CM000663.2:g.220836863C= | GRCh38 |
| NC_000001.10:g.221010205C= , CM000663.1:g.221010205C= | GRCh37 |
| NC_000001.9:g.219076828C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_046901.1:n.293-3671G= | |
| ENST00000651706.1:c.842+31589C= | ENSP00000499157.1:n.842+31589C= |