Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220836648A>C , CM000663.2:g.220836648A>C | GRCh38 |
| NC_000001.10:g.221009990A>C , CM000663.1:g.221009990A>C | GRCh37 |
| NC_000001.9:g.219076613A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.842+31374A>C | ENSP00000499157.1:n.842+31374A>C | |
| NR_046901.1:n.293-3456T>G |