Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564877A>G , CM000682.2:g.35564877A>G | GRCh38 |
| NC_000020.10:g.34152793A>G , CM000682.1:g.34152793A>G | GRCh37 |
| NC_000020.9:g.33616207A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.2015T>C | ||
| ENST00000674470.1:n.1342T>C | ||
| ENST00000611673.4:n.1036T>C | ||
| ENST00000613061.4:n.1386T>C | ||
| ENST00000615531.4:n.4551T>C | ||
| ENST00000616711.4:n.1700T>C | ||
| ENST00000621044.4:n.664T>C | ||
| NR_119376.1:n.4563T>C |