Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102394036A>C , CM000674.2:g.102394036A>C | GRCh38 |
| NC_000012.11:g.102787814A>C , CM000674.1:g.102787814A>C | GRCh37 |
| NC_000012.10:g.101311944A>C | NCBI36 |
| NG_011713.1:g.91565T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945270.1:n.582-10077A>C | ||
| XR_945271.1:n.582-10077A>C | ||
| XR_945272.1:n.582-10077A>C | ||
| XR_945273.1:n.532-10077A>C | ||
| XR_945274.1:n.258-10077A>C | ||
| XR_945275.1:n.138-10077A>C | ||
| XR_945276.1:n.110-10077A>C | ||
| XR_945277.1:n.582-10077A>C | ||
| XR_001749285.1:n.697-10077A>C | ||
| XR_001749286.1:n.258-10077A>C | ||
| XR_001749287.1:n.576-10077A>C | ||
| XR_001749288.1:n.1585-10077A>C |