Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91111713C>G , CM000674.2:g.91111713C>G | GRCh38 |
| NC_000012.11:g.91505490C>G , CM000674.1:g.91505490C>G | GRCh37 |
| NC_000012.10:g.90029621C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.4:c.-337G>C | ENSP00000266718.4:n.-337G>C | |
| NM_002345.3:c.-337G>C | NP_002336.1:n.-337G>C |