Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727250T>G , CM000679.2:g.82727250T>G | GRCh38 |
| NC_000017.10:g.80685126T>G , CM000679.1:g.80685126T>G | GRCh37 |
| NC_000017.9:g.78278415T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*79T>G MANE Select | ENSP00000269373.6:n.*79T>G | |
| ENST00000269373.10:c.*79T>G | ENSP00000269373.6:n.*79T>G | |
| ENST00000571594.1:c.53+83T>G | ENSP00000459751.1:n.53+83T>G | |
| ENST00000574832.5:c.*966T>G | ENSP00000460869.1:n.*966T>G | |
| XM_024450948.1:c.*79T>G | XP_024306716.1:n.*79T>G | |
| NM_024619.4:c.*79T>G MANE Select | NP_078895.2:n.*79T>G | |
| NR_046408.2:n.1187T>G |