Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91182928T>C , CM000674.2:g.91182928T>C | GRCh38 |
| NC_000012.11:g.91576705T>C , CM000674.1:g.91576705T>C | GRCh37 |
| NC_000012.10:g.90100836T>C | NCBI36 |
| NG_011672.1:g.5102A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001920.3:c.-307A>G | NP_001911.1:n.-307A>G |
| NM_001920.4:c.-307A>G | NP_001911.1:n.-307A>G |
| ENST00000052754.9:c.-307A>G | ENSP00000052754.5:n.-307A>G |
| ENST00000393155.6:c.-307A>G | ENSP00000376862.2:n.-307A>G |