Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.634224G>C , CM000663.2:g.634224G>C | GRCh38 |
| NC_000001.10:g.569604G>C , CM000663.1:g.569604G>C | GRCh37 |
| NC_000001.9:g.559467G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000419394.2:n.481-47269C>G | |
| ENST00000440200.5:n.170-26168C>G | |
| ENST00000514057.1:n.529G>C | |
| ENST00000634337.2:n.161-26168C>G | |
| ENST00000635509.2:n.313-32647C>G | |
| ENST00000648019.1:n.636-26168C>G |