Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97851938C>G , CM000671.2:g.97851938C>G | GRCh38 |
| NC_000009.11:g.100614220C>G , CM000671.1:g.100614220C>G | GRCh37 |
| NC_000009.10:g.99654041C>G | NCBI36 |
| NG_011979.1:g.3684C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930158.1:n.218+938G>C | ||
| XR_930159.1:n.218+938G>C | ||
| XR_930160.1:n.218+938G>C | ||
| XR_930161.1:n.218+938G>C | ||
| NR_147055.1:n.165+978G>C |