Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564866C>G , CM000682.2:g.35564866C>G | GRCh38 |
| NC_000020.10:g.34152782C>G , CM000682.1:g.34152782C>G | GRCh37 |
| NC_000020.9:g.33616196C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_119376.1:n.4574G>C | |
| ENST00000611673.4:n.1047G>C | |
| ENST00000613061.4:n.1397G>C | |
| ENST00000615531.4:n.4562G>C | |
| ENST00000616711.4:n.1711G>C | |
| ENST00000621044.4:n.675G>C | |
| ENST00000674340.1:n.2026G>C | |
| ENST00000674470.1:n.1353G>C |